A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD.

Naasse, Yassine; Bakhchane, Amina; Charoute, Hicham; Jennane, Farida; Bignon-Topalovic, Joelle; Malki, Abderrahim; Bashamboo, Anu; Barakat, Abdelhamid; Rouba, Hassan; McElreavey, Ken

Naasse, Yassine; Bakhchane, Amina; Charoute, Hicham; Jennane, Farida; Bignon-Topalovic, Joelle; Malki, Abderrahim; Bashamboo, Anu; Barakat, Abdelhamid; Rouba, Hassan; McElreavey, Ken.

Affiliation

Naasse Y; Laboratoire de Génétique Moléculaire Humaine, Département de la Recherche Scientifique, Institut Pasteur du Maroc, Casablanca, Morocco.

Sex Dev ; 11(5-6): 269-274, 2017.

Article in En | MEDLINE | ID: mdl-29262419

Subject(s)

46, XX Disorders of Sex Development/genetics; Thrombospondins/genetics; Adolescent; Adult; Amino Acid Sequence; Child; Female; Hearing Loss/genetics; Homozygote; Humans; Keratoderma, Palmoplantar/genetics; Male; Molecular Sequence Data; Mutation, Missense/genetics; Pedigree; Protein Domains/genetics; Protein Domains/physiology; Wnt Signaling Pathway/genetics; Wnt Signaling Pathway/physiology; Young Adult

Key words

<italic>RSPO1</italic>; Disorder of sexual development; Palmoplantar keratoderma; Squamous cell carcinoma

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Thrombospondins / 46, XX Disorders of Sex Development Type of study: Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Sex Dev Journal subject: CIENCIAS DO COMPORTAMENTO Year: 2017 Document type: Article Affiliation country: Morocco Country of publication: Switzerland

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