Growth hormone deficiency in a case of cerebrofaciothoracic syndrome in one of two affected siblings.
Kanaka-Gantenbein
Christina
C
Fryssira
Helen
H
Chrousos
George
G
Mastorakos
George
G
D000015:Abnormalities, Multiple / Q000378:metabolism*; D002972:Cleft Palate; D005260:Female; D005317:Fetal Growth Retardation / Q000378:metabolism*; D005333:Fetus; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D035781:Siblings; D013577:Syndrome; D013904:Thoracic Vertebrae / Q000002:abnormalities*
D013006:Growth Hormone