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Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature

BACKGROUND: Autosomal recessive cutis laxa type IC (ARCL IC, MIM: #613177) results from a mutation in the LTBP4 gene (MIM: #604710) on chromosome 19q13. CASE PRESENTATION: A 28-day-old Chinese infant with generalized cutis laxa accompanied by impaired pulmonary, gastrointestinal, genitourinary, reti...

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Detalles Bibliográficos
Autores principales:	Zhang, Qiang, Qin, Zailong, Yi, Shang, Wei, Hao, Zhou, Xun Zhao, Su, Jiasun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727130/ https://www.ncbi.nlm.nih.gov/pubmed/33302946 http://dx.doi.org/10.1186/s12920-020-00842-6

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