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malformative syndromes with ambiguous genitalia

Friday 20 January 2006

Etiology

- ablepharon-macrostomia
- WT1 locus at 11p13

- asplenia, CV anomalies, caudal deficiency
- Beemer syndrome
- deletion 11q
- Fraser syndrome
- Rutledge syndrome
- SCARF syndrome
- Short rib-polydactyly type 2 (Majewski syndrome)
- Smith-Lemli-Opitz
- trimethadone syndrome
- VATER association
- campomelic dysplasia (SOX9 mutations)

See also

- intersex disorders