SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor.
El-Jaick
Kenia Balbi
KB
Brunoni
Decio
D
Castilla
Eduardo E
EE
Moreira
Miguel Angelo
MA
Orioli
Iêda Mario
IM
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002754:Choanal Atresia / Q000473:pathology; D005192:Family Health; D005260:Female; D006130:Growth Disorders / Q000473:pathology; D053823:Hedgehog Proteins; D016142:Holoprosencephaly / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007180:Incisor / Q000002:abnormalities; D007231:Infant, Newborn; D008437:Maxilla; D009035:Mothers; D020125:Mutation, Missense; D009765:Obesity / Q000473:pathology; D015534:Trans-Activators / Q000235:genetics*
D053823:Hedgehog Proteins; C509239:SHH protein, human; D015534:Trans-Activators