Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate.

Meyer, Sascha

Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate. [electronic resource] - American journal of medical genetics. Part A Mar 2013 - 626-9 p. digital

Publication Type: Case Reports; Letter

1552-4833

10.1002/ajmg.a.35758 doi


Arylsulfatases--genetics
Chondrodysplasia Punctata--diagnostic imaging
Genetic Diseases, X-Linked--diagnostic imaging
Hemizygote
Humans
Infant, Newborn
Male
Mutation, Missense
Radiography