Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia.
第一作者:
Emma M,Wade
第一单位:
Department of Women's and Children's Health, Otago Medical School, University of Otago, Dunedin, Aotearoa, New Zealand. emma.wade@otago.ac.nz.
作者:
医学主题词
畸形, 多发性(Abnormalities, Multiple);外显子(Exons);成纤维细胞生长因子10(Fibroblast Growth Factor 10);听觉丧失(Hearing Loss);人类(Humans);泪器疾病(Lacrimal Apparatus Diseases);并指(趾)(Syndactyly);牙畸形(Tooth Abnormalities)
DOI
10.1038/s41431-021-00902-0
PMID
33967277
发布时间
2023-12-01
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