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Cilia get serious: Meckel–Gruber and Bardet–Biedl syndromes represent a spectrum of allelic disorders
Author(s) -
Brunham LR
Publication year - 2009
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2008.01139_2.x
Subject(s) - bardet–biedl syndrome , cilium , allele , genetics , medicine , biology , phenotype , gene
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet‐Biedl syndrome
Leitch et al. (2008)
Nature Genetics 40: 443–448