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Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome)

✍ Scribed by Yves Sznajer; Clarisse Baumann; Albert David; Hubert Journel; Didier Lacombe; Yves Perel; Pascale Blouin; Jean-François Segura; Jean-Pierre Cezard; Michel Peuchmaur; Tomy Vulliamy; Inderjeet Dokal; Alain Verloes

Publisher: Springer
Year: 2003
Tongue: English
Weight: 317 KB
Volume: 162
Category: Article
ISSN: 0340-6997
DOI: 10.1007/s00431-003-1317-5

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X-linked VACTERL with hydrocephalus synd

X-linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations

✍ Joanna McCauley; Navta Masand; Ruth McGowan; Sulekha Rajagopalan; Alasdair Hunte 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 422 KB 👁 2 views

## Abstract X‐linked VACTERL‐hydrocephalus syndrome (X‐linked VACTERL‐H) is a rare disorder caused by mutations in the gene __FANCB__ which underlies Fanconi Anemia (FA) complementation group B. Cells from affected males have increased chromosome breakage on exposure to DNA cross‐linking agents. On