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A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.

Telvi L, Ion A, Carel JC, Desguerre I, Piraud M, Boutin AM, Feingold J, Ponsot G, Fellous M, McElreavey K.

J Med Genet. 1996 Sep;33(9):767-71.


Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?

Naritomi K, Izumikawa Y, Nagataki S, Fukushima Y, Wakui K, Niikawa N, Hirayama K.

Am J Med Genet. 1992 Jul 15;43(5):839-43.


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