A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX-Reference-Cited by-同舟云学术

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX

Published:2014-10 Issue:10 Volume:57 Page:587-595
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ansari Morad,Rainger Jacqueline K.,Murray Jennie E.,Hanson Isabel,Firth Helen V.,Mehendale Felicity,Amiel Jeanne,Gordon Christopher T.,Percesepe Antonio,Mazzanti Laura,Fryer Alan,Ferrari Paola,Devriendt Koenraad,Temple I. Karen,FitzPatrick David R.

Funder

MRC Human Genetics Unit

ERare CRANIRARE

ANR IHU

Centre de Référence Maladie Rare Pierre Robin

Wellcome Trust

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference25 articles.

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2. Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers;Arens;Am J Med Genet A,2004

3. Two novel fibrillin-2 mutations in congenital contractural arachnodactyly;Belleh;Am J Med Genet,2000

4. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence;Benko;Nat Genet,2009

5. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome;Bernier;Am J Hum Genet,2012

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