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7. INTU-related oral-facial-digital syndrome XVII: Clinical spectrum of a rare disorder. Yakar O; Tatar A Am J Med Genet A; 2022 Feb; 188(2):590-594. PubMed ID: 34623732 [TBL] [Abstract][Full Text] [Related]
8. Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. Bayram Y; Aydin H; Gambin T; Akdemir ZC; Atik MM; Karaca E; Karaman A; Pehlivan D; Jhangiani SN; Gibbs RA; Lupski JR Am J Med Genet A; 2015 Sep; 167A(9):2132-7. PubMed ID: 25846457 [TBL] [Abstract][Full Text] [Related]
9. Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome). Monroe GR; Kappen IF; Stokman MF; Terhal PA; van den Boogaard MH; Savelberg SM; van der Veken LT; van Es RJ; Lens SM; Hengeveld RC; Creton MA; Janssen NG; Mink van der Molen AB; Ebbeling MB; Giles RH; Knoers NV; van Haaften G Eur J Hum Genet; 2016 Dec; 24(12):1752-1760. PubMed ID: 27530628 [TBL] [Abstract][Full Text] [Related]
10. Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. Bonnard C; Shboul M; Tonekaboni SH; Ng AYJ; Tohari S; Ghosh K; Lai A; Lim JY; Tan EC; Devisme L; Stichelbout M; Alkindi A; Banu N; Yüksel Z; Ghoumid J; Elkhartoufi N; Boutaud L; Micalizzi A; Brett MS; Venkatesh B; Valente EM; Attié-Bitach T; Reversade B; Kariminejad A Eur J Med Genet; 2018 Oct; 61(10):585-595. PubMed ID: 29605658 [TBL] [Abstract][Full Text] [Related]
11. Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes. Strong A; Simone L; Krentz A; Vaccaro C; Watson D; Ron H; Kalish JM; Pedro HF; Zackai EH; Hakonarson H Am J Med Genet A; 2021 Aug; 185(8):2409-2416. PubMed ID: 34132027 [TBL] [Abstract][Full Text] [Related]
12. Classification of limb anomalies in oral-facial-digital syndromes. al-Qattan MM; Hassanain JM J Hand Surg Br; 1997 Apr; 22(2):250-2. PubMed ID: 9149999 [TBL] [Abstract][Full Text] [Related]
13. Oral-facial-digital syndrome type I: surgical approach and a case report. González MG; Castro MP; Nieto DV; Bouzán JC J Plast Reconstr Aesthet Surg; 2014 Mar; 67(3):396-8. PubMed ID: 23886557 [TBL] [Abstract][Full Text] [Related]
14. Autosomal recessive oral-facial-digital syndrome with resemblance to OFD types II, III, IV and VI: a new OFD syndrome? Chitayat D; Stalker HJ; Azouz EM Am J Med Genet; 1992 Nov; 44(5):567-72. PubMed ID: 1481810 [TBL] [Abstract][Full Text] [Related]
15. Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability? Morán-Barroso V; Valdés Flores M; García-Cavazos R; Kofman-Alfaro S; Saavedra-Ontiveros D Clin Dysmorphol; 1998 Jan; 7(1):55-7. PubMed ID: 9546832 [TBL] [Abstract][Full Text] [Related]
16. TCTN3 mutations cause Mohr-Majewski syndrome. Thomas S; Legendre M; Saunier S; Bessières B; Alby C; Bonnière M; Toutain A; Loeuillet L; Szymanska K; Jossic F; Gaillard D; Yacoubi MT; Mougou-Zerelli S; David A; Barthez MA; Ville Y; Bole-Feysot C; Nitschke P; Lyonnet S; Munnich A; Johnson CA; Encha-Razavi F; Cormier-Daire V; Thauvin-Robinet C; Vekemans M; Attié-Bitach T Am J Hum Genet; 2012 Aug; 91(2):372-8. PubMed ID: 22883145 [TBL] [Abstract][Full Text] [Related]
17. Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect. Hsieh YC; Hou JW Am J Med Genet; 1999 Sep; 86(3):278-81. PubMed ID: 10482880 [TBL] [Abstract][Full Text] [Related]
18. Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification. Nowaczyk MJ; Zeesman S; Whelan DT; Wright V; Feather SA Am J Med Genet A; 2003 Dec; 123A(2):179-82. PubMed ID: 14598343 [TBL] [Abstract][Full Text] [Related]
19. Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI. Poretti A; Brehmer U; Scheer I; Bernet V; Boltshauser E AJNR Am J Neuroradiol; 2008 Jun; 29(6):1090-1. PubMed ID: 18356465 [TBL] [Abstract][Full Text] [Related]
20. A case of oral-facial-digital syndrome with overlapping manifestations of type V and type VI: a possible new OFD syndrome. Chung WY; Chung LP Pediatr Radiol; 1999 Apr; 29(4):268-71. PubMed ID: 10199905 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]