Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

Schanzer A, Achleitner MT,Trumbach D,Hubert L,Munnich A,Ahlemeyer B, AlAbdulrahim MM, Greif PA,Vosberg S,Hummer B, Feichtinger RG, Mayr JA, Wortmann SB, Aichner H,Rudnik-Schoneborn S,Ruiz A,Gabau E, Sanchez JP,Ellard S,Homfray T, Stals KL,Wurst W, Neubauer BA, Acker T, Bohlander SK,Asensio C,Besmond C, Alkuraya FS, AlSayed MD,Hahn A,Weber A

Yearbook of Paediatric Endocrinology(2022)

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