1. Paththinige, Chamara Sampath, Sirisena, Nirmala Dushyanthi, Escande, Fabienne, Petit, Florence, Dissanayake, Vajira Harshadeva Weerabaddana. 2019. Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature. In BMC medical genetics, 20, 108. doi:10.1186/s12881-019-0839-2. https://pubmed.ncbi.nlm.nih.gov/31200655/
2. Chouery, Eliane, Tahan, Elio, Karam, Rim, Mehawej, Cybel, Megarbane, Andre. 2022. BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling. In American journal of medical genetics. Part A, 191, 923-929. doi:10.1002/ajmg.a.63094. https://pubmed.ncbi.nlm.nih.gov/36565049/
3. Kataoka, Kensuke, Matsushima, Takahide, Ito, Yoshiaki, Yokoyama, Shigetoshi, Asahara, Hiroshi. 2017. Bhlha9 regulates apical ectodermal ridge formation during limb development. In Journal of bone and mineral metabolism, 36, 64-72. doi:10.1007/s00774-017-0820-0. https://pubmed.ncbi.nlm.nih.gov/28324176/
4. Schatz, Omri, Langer, Erez, Ben-Arie, Nissim. 2014. Gene dosage of the transcription factor Fingerin (bHLHA9) affects digit development and links syndactyly to ectrodactyly. In Human molecular genetics, 23, 5394-401. doi:10.1093/hmg/ddu257. https://pubmed.ncbi.nlm.nih.gov/24852374/
5. Khan, Feroz, Arshad, Abida, Majeed, Ayesha Isani, Ullah, Asmat, Ahmad, Wasim. 2019. A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly. In European journal of medical genetics, 62, 103688. doi:10.1016/j.ejmg.2019.103688. https://pubmed.ncbi.nlm.nih.gov/31152918/
6. Khan, Amjad, Wang, Rongrong, Han, Shirui, Ahmad, Wasim, Zhang, Xue. 2017. A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family. In Human genome variation, 4, 17054. doi:10.1038/hgv.2017.54. https://pubmed.ncbi.nlm.nih.gov/29263794/
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