Abdolrahimzadeh S, Fameli V, Mollo R, Contestabile MT, Perdicchi A, Recupero SM
Biomed Res Int 2015;2015:781294. Epub 2015 Sep 16 doi: 10.1155/2015/781294. PMID: 26451378 Free PMC Article

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Recent clinical studies

Etiology

Surgical Management of Craniomaxillofacial Features in the Otopalatodigital Spectrum Disorders.

Roland-Billecart T, Schlund M, Lauwers L, Nicot R, Ferri J
J Craniofac Surg 2021 Nov-Dec 01;32(8):2823-2826. doi: 10.1097/SCS.0000000000007707. PMID: 34183625

X-linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy.

Gangadaran P, Chaudhry C, Panigrahi I, Kumari A, Kaur A
Am J Med Genet A 2021 May;185(5):1550-1553. Epub 2021 Feb 22 doi: 10.1002/ajmg.a.62134. PMID: 33615695

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I
J Hum Genet 2016 Aug;61(8):693-9. Epub 2016 May 19 doi: 10.1038/jhg.2016.37. PMID: 27193221

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Diagnosis

X-linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy.

Gangadaran P, Chaudhry C, Panigrahi I, Kumari A, Kaur A
Am J Med Genet A 2021 May;185(5):1550-1553. Epub 2021 Feb 22 doi: 10.1002/ajmg.a.62134. PMID: 33615695

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

Fetal phenotypes in otopalatodigital spectrum disorders.

Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C, Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, Cordier MP, Delezoide AL, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, Blesson S, Bessières B, Lacombe D, Arveiler B, Goizet C, Fergelot P
Clin Genet 2016 Mar;89(3):371-7. Epub 2015 Oct 29 doi: 10.1111/cge.12679. PMID: 26404489

Association of mutations in FLNA with craniosynostosis.

Fennell N, Foulds N, Johnson DS, Wilson LC, Wyatt M, Robertson SP, Johnson D, Wall SA, Wilkie AO
Eur J Hum Genet 2015 Dec;23(12):1684-8. Epub 2015 Apr 15 doi: 10.1038/ejhg.2015.31. PMID: 25873011 Free PMC Article

Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.

Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI
Am J Med Genet A 2007 May 15;143A(10):1120-5. doi: 10.1002/ajmg.a.31696. PMID: 17431908

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