A mutation in <it>KIF7</it> is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

A mutation in <it>KIF7</it> is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

<p><b>Abstract</b></p> <p><b>Background</b></p> <p>We previously reported the existence of a unique autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance mapping to chromosome 15q...

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Bibliographic Details
Main Authors: Ali Bassam R, Silhavy Jennifer L, Akawi Nadia A, Gleeson Joseph G, Al-Gazali Lihadh
Format: Article
Language:English
Published: BMC 2012-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
KIF7
Acrocallosal
Joubert
Sonic hedgehog
Dysmorphism
Multiple epiphyseal dysplasia
Fetal hydrolethalus
Online Access:http://www.ojrd.com/content/7/1/27

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