Cargando…

Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects

BACKGROUND: Cyclin‐dependent kinase 13 plays a critical role in the regulation of gene transcription. Recent evidence suggests that heterozygous variants in CDK13 are associated with a syndromic form of mental deficiency and developmental delay, which is inherited in an autosomal dominant manner. ME...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cui, Xiangrong, Wu, Xueqing, Wang, Hongwei, Zhang, Sanyuan, Wang, Wei, Jing, Xuan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8830809/ https://www.ncbi.nlm.nih.gov/pubmed/35034425 http://dx.doi.org/10.1002/mgg3.1863

Ejemplares similares

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders
por: Bostwick, Bret L., et al.
Publicado: (2017)

Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13
por: Nováková, Monika, et al.
Publicado: (2019)

Congenital Cataracts – Facial Dysmorphism – Neuropathy
por: Kalaydjieva, Luba
Publicado: (2006)

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features
por: Tanaka, Akemi J., et al.
Publicado: (2016)

ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant
por: de la Morena‐Barrio, María Eugenia, et al.
Publicado: (2020)

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease
por: Thiffault, Isabelle, et al.
Publicado: (2017)

BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family
por: Pode‐Shakked, Naomi, et al.
Publicado: (2019)

Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
por: Kim, Yoon-Myung, et al.
Publicado: (2016)

A Review of the Genomic Analysis of Children Presenting with Developmental Delay/Intellectual Disability and Associated Dysmorphic Features
por: Vickers, Ramiah R, et al.
Publicado: (2019)

An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms
por: Iourov, Ivan Y., et al.
Publicado: (2013)

De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features
por: Webster, Emily, et al.
Publicado: (2016)

Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
por: Seo, Go Hun, et al.
Publicado: (2016)

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
por: O’Rawe, Jason A., et al.
Publicado: (2015)

Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery
por: Saghi, Mostafa, et al.
Publicado: (2022)

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants
por: Lebon, Sébastien, et al.
Publicado: (2021)

Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome
por: Chamova, Teodora, et al.
Publicado: (2015)

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms
por: Hladilkova, Eva, et al.
Publicado: (2015)

Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis
por: Naseer, Muhammad Imran, et al.
Publicado: (2020)

Biallelic Mutations in ACACA Cause a Disruption in Lipid Homeostasis That Is Associated With Global Developmental Delay, Microcephaly, and Dysmorphic Facial Features
por: Lou, Xiaoting, et al.
Publicado: (2021)

A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay
por: Ozantürk, Ayşegül, et al.
Publicado: (2016)

Rapamycin ameliorates chitosan nanoparticle-induced developmental defects of preimplantation embryos in mice
por: Choi, Yun-Jung, et al.
Publicado: (2016)

Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features
por: BERTOK, Sara, et al.
Publicado: (2015)

Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies
por: Pachajoa, Harry, et al.
Publicado: (2022)

First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features
por: Straniero, Letizia, et al.
Publicado: (2018)

Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations
por: Sirisena, Nirmala D., et al.
Publicado: (2013)

Anesthesia of a patient with congenital cataract, facial dysmorphism, and neuropathy syndrome for posterior scoliosis: A case report
por: Hudec, Jan, et al.
Publicado: (2022)

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
por: Thomas, Quentin, et al.
Publicado: (2022)

Deletion in the BCL11B Gene and Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-cell Abnormalities – a Case Report
por: Roa-Bautista, Adriel, et al.
Publicado: (2022)

16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature
por: Bucerzan, Simona, et al.
Publicado: (2020)

The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features
por: Hanafusa, Hiroaki, et al.
Publicado: (2017)

A tryst with a dysmorphic parturient with congenital syphilis
por: Kurdi, Madhuri S, et al.
Publicado: (2015)

ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features
por: Çağlayan, Ahmet Okay, et al.
Publicado: (2017)

Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report
por: Moscovich, Mariana, et al.
Publicado: (2013)

Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations
por: Gunduz, Mehmet, et al.
Publicado: (2016)

Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
por: Pratte-Santos, Rodrigo, et al.
Publicado: (2016)

A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review
por: Han, Ji Yoon, et al.
Publicado: (2021)

Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants
por: Paprocka, Justyna, et al.
Publicado: (2021)

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies
por: Lo-A-Njoe, Shirley, et al.
Publicado: (2016)

A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism
por: Choi, Young-Jin, et al.
Publicado: (2016)

Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly
por: Naseer, Muhammad Imran, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_dmi5shdsbq8pqmlvav25t96u97