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When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.
Diagnostics (Basel). 2021 Sep 7;11(9):1636. doi: 10.3390/diagnostics11091636.
Diagnostics (Basel). 2021.
PMID: 34573976
Free PMC article.
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.
Sabbagh Q, Tharreau M, Cenni C, Sanchez E, Ruiz-Pallares N, Alkar F, Amouroux C, David S, Prodhomme O, Leboucq N, Meunier I, Bessis D, Theron A, Barat-Houari M, Willems M.
Sabbagh Q, et al. Among authors: cenni c.
Eur J Med Genet. 2023 May;66(5):104733. doi: 10.1016/j.ejmg.2023.104733. Epub 2023 Feb 25.
Eur J Med Genet. 2023.
PMID: 36842471
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TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype.
Cenni C, Andres S, Hempel M, Strom TM, Thomas E, Davies A, Timoney N, Frigiola A, Logan M, Holder-Espinasse M.
Cenni C, et al.
Eur J Med Genet. 2021 Jul;64(7):104213. doi: 10.1016/j.ejmg.2021.104213. Epub 2021 Apr 27.
Eur J Med Genet. 2021.
PMID: 33930582
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