File:Autosomal-Recessive-Transmission-of-a-Rare-KRT74-Variant-Causes-Hair-and-Nail-Ectodermal-Dysplasia-pone.0093607.g001.jpg

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English: (A) Pedigree of the consanguineous Pakistani family with PHNED (modified from [2]). Affected individuals are represented by filled symbols. Haplotypes are shown below each individual with microsatellite marker alleles on chromosome 12p11.1-q14.3 used for linkage analysis, as well as the relative position of the KRT74 variant identified. Individuals V:1 and V:3 were selected for exome sequencing. (B) Patients V:2 (panels i, ii), V:3 (panels iii, iv) and V:7 (panels v, vi) show hypotrichosis with brittle hair of the scalp and dystrophic, slightly spoon-shaped nails with distal onycholysis and mild micronychia.
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Source Image file from Raykova D, Klar J, Azhar A, Khan T, Malik N, Iqbal M, Tariq M, Baig S, Dahl N (2014). "Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis". PLOS ONE. DOI:10.1371/journal.pone.0093607. PMID 24714551. PMC: 3979697.
Author Raykova D, Klar J, Azhar A, Khan T, Malik N, Iqbal M, Tariq M, Baig S, Dahl N
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current20:35, 8 January 2016Thumbnail for version as of 20:35, 8 January 2016689 × 1,059 (121 KB)Recitation-bot (talk | contribs)Automatic upload of media from: doi:10.1371/journal.pone.0093607

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