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A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.
Khalifa O, Imtiaz F, Allam R, Al-Hassnan Z, Al-Hemidan A, Al-Mane K, Abuharb G, Balobaid A, Sakati N, Hyland J, Al-Owain M. Khalifa O, et al. Among authors: al mane k. J Med Genet. 2012 Apr;49(4):246-8. doi: 10.1136/jmedgenet-2012-100783. J Med Genet. 2012. PMID: 22499343 No abstract available.
Combined TSC1 and LMX1B mutations in a single patient.
Khalifa O, Al-Sakati N, Al-Mane K, Balobaid A, Al-Hassnan ZN. Khalifa O, et al. Among authors: al mane k. Clin Dysmorphol. 2014 Apr;23(2):47-51. doi: 10.1097/MCD.0000000000000025. Clin Dysmorphol. 2014. PMID: 24477276
Intracranial calcification in Raine syndrome.
Al Mane KA, Coates RK, McDonald P. Al Mane KA, et al. Pediatr Radiol. 1996;26(1):55-8. doi: 10.1007/BF01403707. Pediatr Radiol. 1996. PMID: 8598998
Fibromatosis Colli.
Tuwaijri H, Al Mane K. Tuwaijri H, et al. Saudi Med J. 1999 Aug;20(8):642. Saudi Med J. 1999. PMID: 27645191
18 results