Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome

BACKGROUND: The VACTERL with hydrocephalus (VACTERL‐H) phenotype is recognised to be a severe manifestation of autosomal recessive Fanconi anaemia. Several families have been described in which the VACTERL‐H phenotype segregates as an X linked syndrome. The mutations which cause X linked VACTERL‐H s...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Holden, S T, Cox, J J, Kesterton, I, Thomas, N S, Carr, C, Woods, C G
Формат: Artigo
Язык:Inglês
Опубликовано: BMJ Group 2006
Предметы:
Short Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564576/
https://ncbi.nlm.nih.gov/pubmed/16679491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.041673
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы