Searle, Claire

Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome). [electronic resource] - Clinical dysmorphology Jan 2014 - 12-15 p. digital

Publication Type: Case Reports; Journal Article

1473-5717

10.1097/MCD.0000000000000021 doi


Child, Preschool
Codon, Nonsense
Craniosynostoses--complications
Humans
Infant
Infant, Newborn
Male
Osteochondrodysplasias--complications
Sulfotransferases--genetics
Carbohydrate Sulfotransferases