期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 53, 期 5, 页码 291-293出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2010.05.006
关键词
Microdeletion; Chromosome 19p; 19p13.12 deletion; Mental retardation; Hypertrichosis
资金
- Marguerite-Marie Delacroix foundation
- Belgian National Fund for Scientific Research Flanders (FWO)
We present a moderately mentally retarded boy with obesity, short stature, hypertrichosis and facial dysmorphism due to a deletion of 1.2 Mb on chromosome 19p13.2. The deletion was de novo and familial history was negative for the disorder. Genes in the deleted region possibly related to the clinical symptoms of our patient include NOTCH3 (MIM600276), causative of the vascular neurodegenerative disorder CADASIL and CASP14 (MIM605848), playing a central role in apoptosis in the inner root sheeth of the hair follicle. (C) 2010 Elsevier Masson SAS. All rights reserved.
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