Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty

Abstract Background Campomelic dysplasia (CD) is a rare congenital skeletal dysplasia frequently associated with differences of sex development (DSD). In about 10% of affected individuals, the bowing of the long bones (campomelia) is absent, referred to as acampomelic campomelic dysplasia (ACD). Mos...

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Autori principali:	Anna Szoszkiewicz, Ewelina Bukowska-Olech, Paweł Kurzawa, Anna Sowińska-Seidler, Marek Niedziela, Zofia Kolesińska, Aleksander Jamsheer
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2025-11-01
Serie:	Orphanet Journal of Rare Diseases
Soggetti:	17q24 deletion Position effect Campomelic dysplasia SOX9 regulatory element Scoliosis Minipuberty
Accesso online:	https://doi.org/10.1186/s13023-025-04125-0
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