| 1 | BHLHA9, MSSD
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| Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type.
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| Malik S, Percin FE, Bornholdt D, Albrecht B, Percesepe A, Koch MC, Landi A, Fritz B, Khan R, Mumtaz S, Akarsu NA, Grzeschik KH.
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| Am J Hum Genet 95(6):649-59. doi: 10.1016/j.ajhg.2014.10.012. Epub 2014 Nov 13.
2014
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| 2 | BHLHA9, MSSD, SHFM10
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| Gene dosage of the transcription factor Fingerin (bHLHA9) affects digit development and links syndactyly to ectrodactyly.
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| Schatz O, Langer E, Ben-Arie N.
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| Hum Mol Genet 23(20):5394-401. doi: 10.1093/hmg/ddu257. Epub 2014 May 22.
2014
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| 3 | BHLHA9, DUP17P13, SHFM10
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| Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis.
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| Petit F, Andrieux J, Demeer B, Collet LM, Copin H, Boudry-Labis E, Escande F, Manouvrier-Hanu S, Mathieu-Dramard M.
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| Eur J Med Genet 56(2):88-92. doi: 10.1016/j.ejmg.2012.11.002. Epub 2012 Nov 30.
2013
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| 4 | BHLHA9, DUP17P13, SHFM10
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| Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
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| 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.
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| J Med Genet 49(2):119-25. Epub 2011 Dec 6.
2012
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| 5 | BHLHA9, YWHAE
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| Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.
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| Capra V, Mirabelli-Badenier M, Stagnaro M, Rossi A, Tassano E, Gimelli S, Gimelli G.
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| BMC Med Genet 13:93. doi: 10.1186/1471-2350-13-93. 2012
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| 6 | BHLHA9, DUP17P13, SHFM10
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| 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).
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| Armour CM, Bulman DE, Jarinova O, Rogers RC, Clarkson KB, DuPont BR, Dwivedi A, Bartel FO, McDonell L, Schwartz CE, Boycott KM, Everman DB, Graham GE.
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| Eur J Hum Genet 19(11):1144-51. doi: 10.1038/ejhg.2011.97. Epub 2011 Jun 1.
2011
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