Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis

Pure hair and nail ectodermal dysplasia (PHNED) comprises a heterogeneous group of rare heritable disorders characterized by brittle hair, hypotrichosis, onychodystrophy and micronychia. Autosomal recessive (AR) PHNED has previously been associated with mutations in either KRT85 or HOXC13 on chromos...

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Veröffentlicht in:	PloS one 2014-04, Vol.9 (4), p.e93607
Hauptverfasser:	Raykova, Doroteya, Klar, Joakim, Azhar, Aysha, Khan, Tahir Naeem, Malik, Naveed Altaf, Iqbal, Muhammad, Tariq, Muhammad, Baig, Shahid Mahmood, Dahl, Niklas
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amino Acid Sequence Analysis Animals Biology and Life Sciences Biotechnology Care and treatment Chromosome 12 Chromosomes Cleft Palate - genetics Cleft Palate - pathology Coils Consanguinity Diagnosis Digits Dimerization Dysplasia Ectodermal dysplasia Ectodermal Dysplasia - genetics Ectodermal Dysplasia - pathology Epidermis Filaments Follicles Genes Genetic engineering Hair Hair - metabolism Hair - pathology Homozygosity Homozygote Humans Hypotrichosis - genetics Hypotrichosis - pathology Immunology Intellectual Disability - genetics Intellectual Disability - pathology Intermediate filaments Keratin Keratins Keratins, Hair-Specific - analysis Keratins, Hair-Specific - genetics Keratins, Type II - analysis Keratins, Type II - genetics Laboratories Medicine and Health Sciences Mice Molecular Sequence Data Mutation Mutation, Missense Nails - metabolism Nails - pathology Pathology Pedigree Proteins Research and Analysis Methods Stability analysis Syndactyly - genetics Syndactyly - pathology
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