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Hajdu Cheney syndrome; A novel NOTCH2 mutation in a Syrian child, and treatment with zolidronic acid: A case report and a literature review of treatments

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Publikováno v: In Annals of Medicine and Surgery November 2021 71

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Kenny-Caffey syndrome type 1

Autor: Jabbour, Tony El, Aboursheid, Tarek, Keifo, Mohammad Baraa, Maksoud, Ismael, Alasmar, Diana

Publikováno v: Avicenna Journal of Medicine; July 2014, Vol. 4 Issue: 3 p74-76, 3p

A case report of molybdenum cofactor deficiency type A: the first case diagnosed in Syria.

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