Article
Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.
American journal of medical genetics. Part A - 1 May 2018
El-Ruby Mona, El-Din Fayez Alaa, El-Dessouky Sara H, Aglan Mona S, Mazen Inas, Ismail Nora, Afifi Hanan H, Eid Maha M, Mostafa Mostafa I, Mehrez Mennat I, Khalil Yasmin, Zaki Maha S, Gaber Khaled R, Abdel-Hamid Mohamed S, Abdel-Salam Ghada M H
Abstract excerpt
We report two unrelated boys with frontonasal dysplasias type-2 (FND-2) who shared an identical novel homozygous ALX4 mutation c.291delG (p.Q98Sfs*83). Both patients presented with a large skull defect but one had bilateral parietal meningocele-like cysts that lie along with the bony defect and increased in size with age. Scalp alopecia, hypertelorism, and clefted alae nasi were also detected in both of them....
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