Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum.
Rudnik-Schöneborn, S; Zerres, K; Graul-Neumann, L; Wiegand, S; Mellerowicz, H; Hehr, U.
; 1(6): 301-306, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22190900
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Late survival in Ellis-van Creveld syndrome - a case report.
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Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.
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Ellis-van Creveld syndrome.
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