Al-QattanMM. A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands and feet. Clin Genet. 2012, 82: 502–4.
2.
Al-QattanMM. Embryology of familial (non-syndromic)brachydactyly of the hand. J Hand Surg Eur. 2013a. Epub ahead of print 3 December 2013. DOI: 10.1177/1753193413514363.
3.
Al-QattanMM. Classification of dorsal and ventral dimelia in humans. J Hand Surg Eur. 2013b, 38: 928–33.
4.
Al-QattanMM. Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (Limb/pelvis/uterus-hypoplasia/Aplasia) syndrome (AARRS) and Fuhrmann syndrome. Am J Med Genet Part A. 2013c, 161: 2274–80.
5.
Al-QattanMM. Preaxial polydactyly of the upper limb viewed as a spectrum of severity of embryonic events. Ann Plast Surg. 2013d, 71: 118–24.
6.
Al-QattanMMAl BalwiMA. The unclassified variant: C. 2044 AD> G, P.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype. Gene. 2013, 526: 471–3.
7.
Al-QattanMMAl AbdulkareemIAl HaidenYAl BalwiM. A novel mutation in the SHH long-ranger regulator (ZRS) is associated with preaxial polydactyl triphalangeal thumb and severe radial ray reficiency. Am J Med Genet Part A. 2012a, 158: 2610–5.
8.
Al-QattanMMAl AbdulkareemIBallowMAl BalwiM. A report of two cases of Al-Awadi Raas-Rothschild syndrome (AARRS) supporting that “apparent” phocomelia differentiates AARRS from Schinzel phocomelia syndrome (SPS). Gene. 2013a, 527: 371–5.
9.
Al-QattanMMShamseldinHEAlkurayaFS. Familial dorsalization of the skin of the proximal palm and the instep of the sole of the foot. Gene. 2012b, 500: 216–9.
10.
Al-QattanMMShamseldinHEAl-MazyadMAl DeghaitherSAl KurayaFS. Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36. Am J Med Genet Part A. 2013b, 161: 1579–84.
11.
MennenUMundlosSSpielmannM. The Liebenberg syndrome: in depth analysis of the original family. J Hand Surg Eur. Epub ahead of print 12 August 2013. DOI: 10.1177/1753193413502162.
12.
ObergKCFeenstraJMManskePRTonkinMA. Developmental biology and classification of congenital anomalies of the hand and upper extremity. J Hand Surg Am. 2010, 35: 3066–76.
13.
OginoT. Teratogenic relation between central polydactyly, osseous syndactyly and cleft hand. J Hand Surg Br. 1990, 15: 201–9.
14.
OginoTKatoH. Clinical and experimental studies on ulnar ray deficiency. Handchir Mikrochir Plast Chir. 1988, 20: 330–7.
15.
Tytherleigh-StrongGHooperG. The classification of phocomelia. J Hand Surg Br. 2003, 28: 215–7.