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License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Cytomegalic congenital adrenal hypoplasia

Hypospadias

Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.

Total: 2

(per page)

PMID (PMCID)
23272655 (3537693)	OTHER
	X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report.
	Metwalley KA, Farghaly HS. J Med Case Rep. 2012;6:428.
	X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report.
23272655 (3537693)	OTHER
	X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report.
	Metwalley KA, Farghaly HS. J Med Case Rep. 2012;6:428.
	A molecular genetics study confirmed the diagnosis of X-linked congenital adrenal hypoplasia due to DAX-1 mutations and hypospadias due to MAMLD1 mutation.