Cargando…

Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM–URDC (Undiagnosed Rare Disease Clinic) program

IGF1R-related disorders are associated with intrauterine growth restriction (IUGR), postnatal growth failure, short stature, microcephaly, developmental delay, and dysmorphic facial features. We report a patient who presented to medical genetics at 7 mo of age with a history of IUGR, poor feeding, m...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jacobs, Annalise, Burns, Catherine, Patel, Purva, Treat, Kayla, Helm, Benjamin M., Conboy, Erin, Vetrini, Francesco
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2022
Materias:	Research Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958911/ https://www.ncbi.nlm.nih.gov/pubmed/35091507 http://dx.doi.org/10.1101/mcs.a006170

Ejemplares similares

Hypoparathyroidism-retardation-dysmorphism syndrome
por: Kumar, Kalenahalli Jagadish, et al.
Publicado: (2013)

Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III
por: Buchh, Muqsit, et al.
Publicado: (2022)

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria
por: Knerr, Ina, et al.
Publicado: (2005)

Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay, Mental Retardation, and Dysmorphic Features
por: Hu, Jie, et al.
Publicado: (2011)

Noncompaction with dysmorphism, mental retardation, general wasting, and hypogonadism requires neurologic and sophisticated cytogenetic investigations
por: Finsterer, Josef, et al.
Publicado: (2015)

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses
por: James, Kiely N., et al.
Publicado: (2020)

The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited Xq24 Deletion including the UBE2A and CXorf56 Genes
por: Wolańska, Ewelina, et al.
Publicado: (2021)

Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome
por: Yamazawa, Kazuki, et al.
Publicado: (2021)

Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center
por: David, Odeya, et al.
Publicado: (2022)

Body dysmorphic disorder
por: Bjornsson, Andri S., et al.
Publicado: (2010)

Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report
por: Krgovic, Danijela, et al.
Publicado: (2011)

Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency
por: David, Odeya, et al.
Publicado: (2022)

Validation of Spanish Language Evaluation Instruments for Body Dysmorphic Disorder and the Dysmorphic Concern Construct
por: Senín-Calderón, Cristina, et al.
Publicado: (2017)

Association of imprinting status of IGF2 with the pathophysiology of intrauterine growth retardation in rats
por: Zhou, Xiuyun, et al.
Publicado: (2013)

De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features
por: Varvagiannis, Konstantinos, et al.
Publicado: (2014)

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
por: D’Apice, Maria Rosaria, et al.
Publicado: (2015)

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

Brief assessment of negative dysmorphic signs
por: Fiori, Patrizia, et al.
Publicado: (2010)

Body Dysmorphic Disorder in Plastic Surgery
por: Tadisina, Kashyap K., et al.
Publicado: (2013)

A girl with short stature and dysmorphism
por: Cheng, SW, et al.
Publicado: (2013)

Recognizing Body Dysmorphic Disorder (Dysmorphophobia)
por: Varma, Anukriti, et al.
Publicado: (2015)

Understanding and treating body dysmorphic disorder
por: Singh, Aoife Rajyaluxmi, et al.
Publicado: (2019)

Pharmacological Treatment of Body Dysmorphic Disorder
por: Hong, Kevin, et al.
Publicado: (2019)

Undiagnosed Sjögren's Syndrome Presenting as Mesenteric Panniculitis
por: Burns, Rebecca L., et al.
Publicado: (2016)

Smallpox and Season: Reanalysis of Historical Data
por: Nishiura, Hiroshi, et al.
Publicado: (2009)

Reanalysis After Retraction of Included Article
Publicado: (2023)

Low postnatal serum IGF-I levels are associated with bronchopulmonary dysplasia (BPD)
por: Löfqvist, Chatarina, et al.
Publicado: (2012)

JAK2-IGF1 axis in osteoclasts regulates postnatal growth in mice
por: Dodington, David W., et al.
Publicado: (2021)

Prenatal and Postnatal Management
Publicado: (1938)

How Do Undiagnosed Symptoms of Maternal Psychological Distress During the Postnatal Period Affect Child Developmental Outcomes?
por: Bell, Kerry, et al.
Publicado: (2019)

Deletion of the MBII-85 snoRNA Gene Cluster in Mice Results in Postnatal Growth Retardation
por: Skryabin, Boris V, et al.
Publicado: (2007)

Avoiding Postnatal Growth Retardation by Individualized Fortification of Breast Milk: Implications for Somatic and Neurodevelopmental Outcomes
por: Fusch, Christoph
Publicado: (2019)

Postnatal growth retardation is associated with intestinal mucosa mitochondrial dysfunction and aberrant energy status in piglets
por: Qi, Ming, et al.
Publicado: (2020)

β-hydroxybutyrate administration improves liver injury and metabolic abnormality in postnatal growth retardation piglets
por: Wang, Chengming, et al.
Publicado: (2023)

Body Dysmorphic Disorder : An Unusual Presentation of Schizophrenia
por: Patel, Amul, et al.
Publicado: (2004)

Body dysmorphic disorder in aesthetic rhinoplasty candidates
por: MR, Fathololoomi, et al.
Publicado: (2013)

Dysfunctional Metacognitive Beliefs in Body Dysmorphic Disorder
por: Zeinodini, Zahra, et al.
Publicado: (2016)

New perspectives in the treatment of body dysmorphic disorder
por: Hong, Kevin, et al.
Publicado: (2018)

Response: A Reanalysis of Sperm Density Data
por: Swan, Shanna H., et al.
Publicado: (1998)

A reanalysis dataset of the South China Sea
por: Zeng, Xuezhi, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_k4kg0inctavf6t0mqt8n0sve7h