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Document type:
journal article 
Author(s):
Umair, Muhammad; Seidel, Heide; Ahmed, Ishtiaq; Ullah, Asmat; Haack, Tobias B; Alhaddad, Bader; Jan, Abid; Rafique, Afzal; Strom, Tim M; Ahmad, Farooq; Meitinger, Thomas; Ahmad, Wasim 
Title:
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. 
Abstract:
Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet. EVC/EVC2 located in head-to-head arrangement on chromosome 4p16 are the causative genes for EvC syndrome. In the study, we present two families, A and B, with Pakistani and Republic of Kosovo origin, respectively. They s...    »
 
Journal title abbreviation:
J Genet 
Year:
2017 
Journal volume:
96 
Journal issue:
Pages contribution:
1005-1014 
Language:
eng 
Print-ISSN:
0022-1333 
TUM Institution:
Institut für Humangenetik