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Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih JBCGenetics. 2018; 1(1): 37-39 » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1530040885
Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki JBCGenetics. 2018; 1(1): 40-42 » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1531469195
An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation Ameur Ammari, Amal Alhashem, Hanen Abdelraouf, Fatma Alzahrani, Fowzan Sami Alkuraya, Brahim Tabarki JBCGenetics. 2018; 1(1): 43-46 » Abstract » HTML Fulltext» PDF» doi: 10.24911/JBCGenetics/183-1531458597