Ambiguous genitalia

SF Witchel, PA Lee - Sperling Pediatric Endocrinology, 2021 - Elsevier
malformations, such as agenesis of the corpus callosum, holoprosencephaly, and postaxial
polydactyly. … .158, 159 Familial campomelic dysplasia associated with a deletion upstream of …

Nephronophthisis 13 caused by WDR19 variants with pancytopenia: case report

Y Tanaka, T Horinouchi, Y Inoki, Y Ichikawa, C Ueda… - CEN Case Reports, 2024 - Springer
… He was born to non-consanguineous, healthy parents, had … eye movements, polydactyly,
skeletal abnormalities or other … -Biedl syndrome [21], and oral-facial-digital syndrome [22]. …