The Role of Cilia in Skeletal Development and Disease
M Schmidts - Cilia, 2018 - taylorfrancis.com
… Polydactyly, campomelia, ambiguous genitalia, cystic … of consanguineous parents: a
new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome …
new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome …
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 …
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]. …
skeletal abnormalities or other … -Biedl syndrome [21], and oral-facial-digital syndrome [22]. …
Fetal Musculoskeletal System
E Hernandez-Andrade, L Yeo… - … in Obstetrics and …, 2016 - books.google.com
… gene cause campomelic dysplasia, a severe skeletal disorder … with a high rate of
consanguineous unions. 41 An overview of the … short ribs in a fetus with short rib–polydactyly …
consanguineous unions. 41 An overview of the … short ribs in a fetus with short rib–polydactyly …