Familial dorsalization of the skin of the proximal palm and the instep of the sole of the foot

M.M. AL-Qattan; H.E. Shamseldin; F.S. Alkuraya

doi:10.1016/j.gene.2012.03.009

Back

Familial dorsalization of the skin of the proximal palm and the instep of the sole of the foot

Journal article

Peer reviewed

Familial dorsalization of the skin of the proximal palm and the instep of the sole of the foot

M.M. AL-Qattan, H.E. Shamseldin and F.S. Alkuraya

Gene, Vol.500(2), pp.216-219

01/06/2012

DOI: https://doi.org/10.1016/j.gene.2012.03.009

PMID: 22484600

Abstract

Autosomal dominant

Dimelia

GEL1

Palmar hamartoma

► A family is presented with an autosomal dominant dimelia. ► Three possible linkage loci are identified. ► Exome sequencing highlighted a single novel variant in GEL1.

Metrics

1 Record Views

Details

Title: Familial dorsalization of the skin of the proximal palm and the instep of the sole of the foot
Creators - without role: M.M. AL-Qattan - King Saud University
H.E. Shamseldin - King Faisal Specialist Hospital & Research Centre
F.S. Alkuraya - King Faisal Specialist Hospital & Research Centre
Publication Details: Gene, Vol.500(2), pp.216-219
Publisher: Elsevier B.V
Identifiers: 9913785908331
Academic Unit: King Khalid University; King Faisal University; King Saud University; Alfaisal University
Language: English
Resource Type: Journal article