Cargando…

Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype

BACKGROUND: Dubowitz syndrome (DS) is a complex and rare condition characterized by postnatal growth retardation, microcephaly, short stature, mild developmental delay, facial dysmorphism, skin eruption and bone marrow failure. Though approximately 200 cases have been described so far, no specific g...

Descripción completa

Detalles Bibliográficos
Autores principales:	Amodeo, Maria Elisa, Inzaghi, Elena, Deodati, Annalisa, Cianfarani, Stefano
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172207/ https://www.ncbi.nlm.nih.gov/pubmed/33788412 http://dx.doi.org/10.1002/mgg3.1644

Ejemplares similares

Epigenetics and In Utero Acquired Predisposition to Metabolic Disease
por: Deodati, Annalisa, et al.
Publicado: (2020)

The Effects of Nutrition on Linear Growth
por: Inzaghi, Elena, et al.
Publicado: (2022)

Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome
por: Darcy, Diana C., et al.
Publicado: (2011)

A prospective case-control study on miRNA circulating levels in subjects born small for gestational age (SGA) evaluated from childhood into young adulthood
por: Inzaghi, Elena, et al.
Publicado: (2020)

Dubowitz syndrome: common findings and peculiar urine odor
por: Chehade, Cynthia, et al.
Publicado: (2013)

The Challenge of Growth Hormone Deficiency Diagnosis and Treatment during the Transition from Puberty into Adulthood
por: Inzaghi, Elena, et al.
Publicado: (2013)

Grand Challenges in Pediatric Endocrinology
por: Cianfarani, Stefano
Publicado: (2010)

The Rationale for Growth Hormone Therapy in Children with Short Stature
por: Deodati, Annalisa, et al.
Publicado: (2017)

Dubowitz Syndrome: A Review and Implications for Cognitive, Behavioral, and Psychological Features
por: Huber, Rebekah S., et al.
Publicado: (2011)

Anesthesia of a patient with Dubowitz syndrome -A case report-
por: Lee, Min Kee, et al.
Publicado: (2010)

Recurrent Ptosis in a Case of Dubowitz Syndrome
por: Agrawal, Sahil, et al.
Publicado: (2021)

Prevalence of prediabetes in children and adolescents by class of obesity
por: Pedicelli, Stefania, et al.
Publicado: (2022)

Multiple cerebral cavernous malformations in association with a Dubowitz-like syndrome
por: Mostofi, Abteen, et al.
Publicado: (2020)

Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders
por: Stewart, Douglas R., et al.
Publicado: (2014)

Insulin Clearance at the Pubertal Transition in Youth with Obesity and Steatosis Liver Disease
por: Franceschi, Roberto, et al.
Publicado: (2023)

Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
por: Brady, Lauren, et al.
Publicado: (2022)

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies
por: Ponzi, Emanuela, et al.
Publicado: (2020)

12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?
por: Dória, Sofia, et al.
Publicado: (2020)

Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report
por: Ballini, Andrea, et al.
Publicado: (2011)

School and pre-school children with type 1 diabetes during Covid-19 quarantine: The synergic effect of parental care and technology
por: Schiaffini, Riccardo, et al.
Publicado: (2020)

A report on seven fetal cases associated with 15q11‐q13 microdeletion and microduplication
por: Huang, Xiuzhu, et al.
Publicado: (2021)

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome
por: Roberti, Maria Cristina, et al.
Publicado: (2011)

Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature
por: Fang, Hung‐Hsiang, et al.
Publicado: (2019)

Inherited 2q23.1 microdeletions involving the MBD5 locus
por: Tadros, Shereen, et al.
Publicado: (2017)

19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype
por: Abe, Kikue Terada, et al.
Publicado: (2018)

A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
por: Mandrile, Giorgia, et al.
Publicado: (2014)

Identification of the DNA Repair Defects in a Case of Dubowitz Syndrome
por: Yue, Jingyin, et al.
Publicado: (2013)

Pyoderma Gangrenosum: A Challenging Cutaneous Manifestation in Dubowitz Syndrome
por: Ghode, Dewang B, et al.
Publicado: (2023)

12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region
por: Mc Cormack, Adrian, et al.
Publicado: (2015)

Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome
por: Komlósi, Katalin, et al.
Publicado: (2015)

Prader–Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion
por: Tan, Qiming, et al.
Publicado: (2020)

Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature
por: Țuțulan-Cuniță, A, et al.
Publicado: (2022)

Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features
por: Roberts, Jennifer L., et al.
Publicado: (2014)

Increased incidence of childhood type 1 diabetes during the COVID‐19 pandemic. Figures from an Italian tertiary care center
por: Schiaffini, Riccardo, et al.
Publicado: (2022)

Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size
por: Halder, Ashutosh, et al.
Publicado: (2012)

An atypical autistic phenotype associated with a 2q13 microdeletion: a case report
por: Guivarch, Jokthan, et al.
Publicado: (2018)

A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder
por: Shimojima, Keiko, et al.
Publicado: (2017)

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature
por: Mercadante, Francesca, et al.
Publicado: (2020)

Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review
por: Liu, Yaobin, et al.
Publicado: (2020)

Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23
por: Brisset, Sophie, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_05cmlkrd0aqkees8smsmgevi1b