title: Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate.
authors: Sascha
authors: S
authors: Meyer
authors: Günther
authors: G
authors: Löffler
authors: Martin
authors: M
authors: Gencik
authors: Peter
authors: P
authors: Fries
authors: Panagiotis
authors: P
authors: Papanagiotou
authors: Barbara
authors: B
authors: Oehl-Jaschkowitz
authors: Ludwig
authors: L
authors: Gortner
mesh_terms: D001192:Arylsulfatases / Q000235:genetics*; D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging* / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000000981:diagnostic imaging* / Q000235:genetics; D057898:Hemizygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D011859:Radiography
chemical_list: C110155:ARSL protein, human; D001192:Arylsulfatases