1. 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/
2. 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/
3. 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/
4. Bohic, Manon, Marics, Irène, Santos, Catarina, Saurin, Andrew J, Moqrich, Aziz. . Loss of bhlha9 Impairs Thermotaxis and Formalin-Evoked Pain in a Sexually Dimorphic Manner. In Cell reports, 30, 602-610.e6. doi:10.1016/j.celrep.2019.12.041. https://pubmed.ncbi.nlm.nih.gov/31968239/
5. Díaz-González, Francisca, Parrón-Pajares, Manuel, Barcia-Ramirez, Ana, Heath, Karen E. 2020. First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction. In American journal of medical genetics. Part A, 182, 628-631. doi:10.1002/ajmg.a.61480. https://pubmed.ncbi.nlm.nih.gov/31912643/
6. Bukowska-Olech, Ewelina, Sowińska-Seidler, Anna, Wierzba, Jolanta, Jamsheer, Aleksander. 2022. SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably. In Orphanet journal of rare diseases, 17, 325. doi:10.1186/s13023-022-02480-w. https://pubmed.ncbi.nlm.nih.gov/36028842/
7. 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/
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