A novel heterozygous variant in exon 32 of the CHD7 gene (c.6923C>T) in a Syrian family with Kallmann syndrome

Please use this identifier to cite or link to this item: http://dspace.bsu.edu.ru/handle/123456789/43230

Title:	A novel heterozygous variant in exon 32 of the CHD7 gene (c.6923C>T) in a Syrian family with Kallmann syndrome
Authors:	Abdulsamad Wafa, Faten Moassass Suher Almedani, Thomas Liehr Kathleen Wilhelm
Keywords:	medicine medical genetics heterogeneity mutation CHARGE syndrome hypogonadotropic hypogonadism anosmia
Issue Date:	2020
Citation:	A novel heterozygous variant in exon 32 of the CHD7 gene (c.6923C>T) in a Syrian family with Kallmann syndrome / Abdulsamad Wafa [et al.] // Научные результаты биомедицинских исследований. - 2020. - Т.6, №2.-С. 154-159. - Doi: 10.18413/2658-6533-2020-6-2-0-1. - Refer.: p. 158-159.
Abstract:	To report a paternal transmission of a variant in exon 32 of the CHD7 gene (c.6923C>T) in a familial case originally suggested to be affected by KS
URI:	http://dspace.bsu.edu.ru/handle/123456789/43230
Appears in Collections:	Т. 6, вып. 2

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