Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot MalformationUGUR, Sibel Aylin; TOLUN, Aslihan.Human molecular genetics (Print). 2008, Vol 17, Num 17, pp 2644-2653, issn 0964-6906, 10 p.Article

Split Hand Foot Malformation With Whorl-Like Pigmentary Pattern : Phenotypic Expression of Somatic Mosaicism for the p63 MutationKOSAKI, Rika; NAITO, Yoko; TORII, Chiharu et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 19, pp 2574-2577, issn 1552-4825, 4 p.Article

A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17pl3.1-17pl3.3LEZIROVITZ, Karina; PEDROSA MAESTRELLI, Sylvia Regina; HENDERSON COTRIM, Nelson et al.Human genetics. 2008, Vol 123, Num 6, pp 625-631, issn 0340-6717, 7 p.Article

4q32―q35 and 6q16―q22 are valuable candidate regions for split hand/foot malformationNIEDRIST, Dunja; LURIE, Iosif W; SCHINZEL, Albert et al.European journal of human genetics. 2009, Vol 17, Num 8, pp 1086-1091, issn 1018-4813, 6 p.Article

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocationBABBS, Christian; HELLER, Raoul; EVERMAN, David B et al.Human genetics. 2007, Vol 122, Num 2, pp 191-199, issn 0340-6717, 9 p.Article

Homologous Nonsense Mutation in WNT10B and Sporadic Split-Hand/Foot Malformation (SHFM) With Autosomal Recessive InheritanceBLATTNER, Ariane; HUBER, Andreas R; RÖTHLISBERGER, Benno et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 8, pp 2053-2056, issn 1552-4825, 4 p.Article

Three New Patients With FATCO: Fibular Agenesis With EctrodactylyBIEGANSKI, Tadeusz; JAMSHEER, Aleksander; SOWINSKA, Anna et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1542-1550, issn 1552-4825, 9 p.Article

Somatic/Gonadal Mosaicism in a Syndromic Form of Ectrodactyly, Including Eye Abnormalities, Documented Through Array-Based Comparative Genomic HybridizationBONALUMI, Aguinaldo; SOUZA, Josiane; RASKIN, Salmo et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 5, pp 1152-1156, issn 1552-4825, 5 p.Article

A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformationKHAN, S; BASIT, S; ZIMRI, F. K et al.Clinical genetics. 2012, Vol 82, Num 1, pp 48-55, issn 0009-9163, 8 p.Article

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangementsDIMITROV, B. I; DE RAVEL, T; VAN DRIESSCHE, J et al.Journal of medical genetics. 2010, Vol 47, Num 2, pp 103-111, issn 0022-2593, 9 p.Article

Split Hand-Foot Malformation, Tetralogy of Fallot, Mental Retardation and a 1 Mb 19p Deletion-Evidence for Further Heterogeneity?ATEN, Emmelien; DEN HOLLANDER, Nicolette; RUIVENKAMP, Claudia et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 5, pp 975-981, issn 1552-4825, 7 p.Article

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformationSHAMSELDIN, Hanan E; FADEN, Maha A; ALASHRAM, Walid et al.Journal of medical genetics. 2012, Vol 49, Num 1, pp 16-20, issn 0022-2593, 5 p.Article

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)ARMOUR, Christine M; BULMAN, Dennis E; BOYCOTT, Kym M et al.European journal of human genetics. 2011, Vol 19, Num 11, pp 1144-1151, issn 1018-4813, 8 p.Article

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanismVAN SILFHOUT, Anneke T; VAN DEN AKKER, Peter C; DIJKHUIZEN, Trijnie et al.European journal of human genetics. 2009, Vol 17, Num 11, pp 1432-1438, issn 1018-4813, 7 p.Article

Ectrodactyly with fibular aplasia : A separate entity?MENKE, Leonie A; BIJLSMA, Emilia K; VAN ESSEN, Anthonie J et al.European journal of medical genetics. 2008, Vol 51, Num 5, pp 488-496, issn 1769-7212, 9 p.Article

A 0.7 Mb De Novo Duplication at 7q21.3 Including the Genes DLX5 and DLX6 in a Patient With Split-Hand/Split-Foot MalformationVELINOV, Milen; AHMAD, Ausaf; BROWN-KIPPHUT, Brigette et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 12, pp 3201-3206, issn 1552-4825, 6 p.Article

Complex Rearrangement of Chromosome 7q21.13-q22.1 Confirms the Ectrodactyly-Deafness Locus and Suggests New Candidate GenesBERNARDINI, Laura; PALKA, Chiara; CECCARINI, Caterina et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 2, pp 238-244, issn 1552-4825, 7 p.Article

characterization of the Complex 7q21.3 Rearrangement in a Patient With Bilateral Split-Foot Malformation and Hearing LossSAITSU, Hirotomo; KUROSAWA, Kenji; MATSUMOTO, Naomichi et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 6, pp 1224-1230, issn 1552-4825, 7 p.Article

Abnormal urethra formation in mouse models of Split-hand/split-foot malformation type 1 and type 4SUZUKI, Kentaro; HARAGUCHI, Ryuma; LEVI, Giovanni et al.European journal of human genetics. 2008, Vol 16, Num 1, pp 36-44, issn 1018-4813, 9 p.Article

A New Report of Cornelia de Lange Syndrome Associated With Split Hand and FeetBARBONI, Chiara; CEREDA, Anna; MARIANI, Milena et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 11, pp 2953-2955, issn 1552-4825, 3 p.Article

Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1→pter) and partial trisomy 10q (10q25.1→qter)CHEN, Chih-Ping; CHEN, Yann-Jang; CHERN, Schu-Rern et al.Prenatal diagnosis. 2008, Vol 28, Num 5, pp 450-453, issn 0197-3851, 4 p.Article

Split Hand-Split Foot-Ectodermal Dysplasia and Amelogenesis Imperfecta With a TP63 MutationKANTAPUTRA, Piranit N; MATANGKASOMBUT, Oranart; SRIPATHOMSAWAT, Warissara et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 1, pp 188-192, issn 1552-4825, 5 p.Article