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Karthik, T. and Venugopal , V. and Dalal, Ashwin and Aggarwal, Shagun (2018) Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype. American Journal of Medical Genetics A, 176 (4). pp. 1006-1010. ISSN 1552-4825

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Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (MIM # 610644) is a clinically distinctive form of SRY-negative 46,XX disorder of sex development. It is a rare autosomal recessive disorder caused due to biallelic loss of function mutations in RSPO1 gene. RSPO1 acts by activating the canonical β-catenin pathway and is one of the most important genes controlling female gonadal differentiation. RSPO1-associated disorders of sex development have been described only in three instances in the past. We report fourth such case with additional findings and perform a comparative review of previous phenotypic descriptions, thereby expanding the clinical phenotype of this syndrome.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 04 Apr 2018 19:56
Last Modified: 13 Jul 2018 06:05
URI: http://cdfd.sciencecentral.in/id/eprint/835

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