A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference6 articles.
1. Distribution pattern of Notch3 mutations suggests a gain-of-function mechanism for CADASIL;Donahue;Genomics,2004
2. DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation;Engels;Neurology,2007
3. The DNA sequence and biology of human chromosome 19;Grimwood;Nature,2004
4. A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies;Jensen;Am. J. Med. Genet. A,2009
5. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia;Joutel;Nature,1996
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1. Transcription Pause and Escape in Neurodevelopmental Disorders;Frontiers in Neuroscience;2022-05-09
2. Three Pediatric Siblings With CADASIL;Pediatric Neurology;2022-04
3. Syndromic obesity with neurodevelopmental delay: Opportunities for targeted interventions;European Journal of Medical Genetics;2022-03
4. Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome;Annals of Human Genetics;2018-10-10
5. A recognizable phenotype related to 19p13.12 microdeletion;American Journal of Medical Genetics Part A;2018-07-28
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