| SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably. | SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably.
Bukowska-Olech E, Sowińska-Seidler A, Wierzba J, Jamsheer A., Free PMC Article | 09/3/2022 |
| Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly. | Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly.
Sedighzadeh SS, Sedaghat A, Zamani M, Seifi T, Shariati G, Zeighami J, Mazaheri N, Galehdari H. | 01/22/2022 |
| This is the second report providing evidence of association of polydactyly with Mesoaxial synostotic syndactyly caused by frameshift variant in the gene BHLHA9. The present molecular investigation will support genetic counselling of the local population carrying diseased variants. | A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly.
Khan F, Arshad A, Majeed AI, Ullah A, Ahmad W. | 12/14/2019 |
| BHLHA9 duplication causing split hand/foot malformation with long bone deficiency. | Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
Paththinige CS, Sirisena ND, Escande F, Manouvrier S, Petit F, Dissanayake VHW., Free PMC Article | 12/7/2019 |
| A novel insertion and deletion mutation in the BHLHA9 causes polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction. | A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction.
Ullah A, Ali RH, Majeed AI, Liaqat K, Shah PW, Khan B, Bilal M, Umair M, Ahmad W. | 04/6/2019 |
| Founder triplication of BHLHA9 is associated with femoral-tibial-digital malformations. | Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9.
Nagata E, Haga N, Fujisawa Y, Fukami M, Nishimura G, Ogata T. | 10/22/2016 |
| this is the first study revealing the underlying genetic factor for the development of GWC, and demonstrating the presence of triplications involving BHLHA9 | Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.
Nagata E, Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura K, Kosho T, Hasegawa T, Kimizuka M, Suzuki A, Shimizu K, Ohashi H, Haga N, Numabe H, Horii E, Nagai T, Yoshihashi H, Nishimura G, Toda T, Takada S, Yokoyama S, Asahara H, Sano S, Fukami M, Ikegawa S, Ogata T., Free PMC Article | 02/13/2016 |
| BHLHA9 is identified as an essential player in the regulatory network governing limb morphogenesis in humans. | Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.
Malik S, Percin FE, Bornholdt D, Albrecht B, Percesepe A, Koch MC, Landi A, Fritz B, Khan R, Mumtaz S, Akarsu NA, Grzeschik KH., Free PMC Article | 02/28/2015 |
| Here, we report on 13 new families presenting with ectrodactyly and harboring a BHLHA9 duplication. | Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.
Petit F, Jourdain AS, Andrieux J, Baujat G, Baumann C, Beneteau C, David A, Faivre L, Gaillard D, Gilbert-Dussardier B, Jouk PS, Le Caignec C, Loget P, Pasquier L, Porchet N, Holder-Espinasse M, Manouvrier-Hanu S, Escande F. | 11/22/2014 |
| BHLHA9 gene contribute to the phenotype of small 17p13.3 chromosomal duplication in Miller-Dieker syndrome | Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.
Capra V, Mirabelli-Badenier M, Stagnaro M, Rossi A, Tassano E, Gimelli S, Gimelli G., Free PMC Article | 01/26/2013 |
| Genomic duplications encompassing BHLHA9 are associated with SHFLD and non-Mendelian inheritance characterised by a high degree of non-penetrance with sex bias. | Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S. | 05/12/2012 |