Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene

Campomelic dysplasia is a rare neonatal skeletal malformation syndrome mainly characterized by congenital bowing and angulation of long bones in combination with other skeletal and extraskeletal defects. Two thirds of karyotypic males exhibit male-to-female sex reversal. Point mutations within SOX9...

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Veröffentlicht in:	Clinical dysmorphology 2001-07, Vol.10 (3), p.197-201
Hauptverfasser:	Jakubiczka, S, Bettecken, T, Koch, G, Tüysüz, B, Wollnik, B, Wieacker, P
Format:	Artikel
Sprache:	eng
Schlagworte:	Child, Preschool Disorders of Sex Development DNA Mutational Analysis High Mobility Group Proteins - chemistry High Mobility Group Proteins - genetics HMG-Box Domains - genetics Humans Male Osteochondrodysplasias - genetics Parents Point Mutation SOX9 Transcription Factor Transcription Factors - chemistry Transcription Factors - genetics Turkey
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