Alopecia‐mental retardation syndrome: Molecular genetics of a rare neuro‐dermal disorder
Author:
Affiliation:
1. Gomal Centre of Biochemistry and Biotechnology Gomal University Dera Ismail Khan KPK Pakistan
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12425
Reference33 articles.
1. Alopecia universalis as a single abnormality in an inbred Pakistani kindred
2. Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
3. C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients
4. High resolution two-dimensional electrophoresis of human plasma proteins.
5. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
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