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Birk-Barel Intellectual Disability Dysmorphism Syndrome

MedGen UID:
893522
Concept ID:
CN239226
Disease or Syndrome

Recent clinical studies

Etiology

Hamilton MJ, Suri M
Adv Genet 2020;105:137-174. Epub 2020 May 26 doi: 10.1016/bs.adgen.2020.03.002. PMID: 32560786

Diagnosis

Yamada M, Suzuki H, Watanabe A, Uehara T, Takenouchi T, Mizuno S, Kosaki K
Congenit Anom (Kyoto) 2021 May;61(3):76-81. Epub 2020 Nov 24 doi: 10.1111/cga.12400. PMID: 33118233
Hamilton MJ, Suri M
Adv Genet 2020;105:137-174. Epub 2020 May 26 doi: 10.1016/bs.adgen.2020.03.002. PMID: 32560786
Graham JM Jr, Zadeh N, Kelley M, Tan ES, Liew W, Tan V, Deardorff MA, Wilson GN, Sagi-Dain L, Shalev SA
Am J Med Genet A 2016 Oct;170(10):2632-7. Epub 2016 May 6 doi: 10.1002/ajmg.a.37740. PMID: 27151206
Veale EL, Hassan M, Walsh Y, Al-Moubarak E, Mathie A
Mol Pharmacol 2014 Mar;85(3):397-407. Epub 2013 Dec 16 doi: 10.1124/mol.113.090530. PMID: 24342771

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