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Article

Expanding the reproductive organ phenotype of CHD7-spectrum disorder.

American journal of medical genetics. Part A - 1 May 2023

Nomakuchi Tomoki T, Danowitz Melinda, Stewart Blythe, Leonard Jacqueline, Izumi Kosuke, Krantz Ian, Kolon Thomas F, Langdon David, Skraban Cara, Van Batavia Jason, Zackai Elaine, Jiao Kai, Linn Rebecca, Alexander Caitlin, Zaontz Mark, Vogiatzi Maria G, Pyle Louise C

Abstract excerpt

CHD7 disorder is a multiple congenital anomaly syndrome with a highly variable phenotypic spectrum, and includes CHARGE syndrome. Internal and external genital phenotypes frequently seen in CHD7 disorder include cryptorchidism and micropenis in males, and vaginal hypoplasia in females, both thought to be secondary to hypogonadotropic hypogonadism. Here, we report 14 deeply phenotyped individuals with known CHD7...

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Identifiers

PMID: 36794641
DOI: 10.1002/ajmg.a.63148
PMCID: PMC10501305

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