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Akademický článek

Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China

Autor: Lulu Yan, Juan Cao, Yuxin Zhang, Yingwen Liu, Jinghui Zou, Biying Lou, Danyan Zhuang, Haibo Li

Publikováno v: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-8 (2023)

Abstract Background Rhizomelic limb shortening with dysmorphic features (RLSDF) has already been a disorder of the rare autosomal recessive skeletal dysplasia, just having a few reported cases. RLSDF is caused by protein kinase domain containing, cyt

Externí odkaz: https://doaj.org/article/26f0b98aebf34205ac477cb30e0349bd

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Akademický článek

Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China.

Autor: Yan, Lulu¹ (AUTHOR), Cao, Juan² (AUTHOR), Zhang, Yuxin¹ (AUTHOR), Liu, Yingwen¹ (AUTHOR), Zou, Jinghui³ (AUTHOR), Lou, Biying⁴ (AUTHOR), Zhuang, Danyan¹ (AUTHOR), Li, Haibo¹ (AUTHOR) doctor_lihb075@sina.com

Publikováno v: BMC Medical Genomics. 8/17/2023, Vol. 16 Issue 1, p1-8. 8p.

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Periodical

Research from Ningbo Women and Children's Hospital Reveals New Findings on Medical Genomics (Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from...).

Publikováno v: Genomics & Genetics Weekly; 9/8/2023, p1405-1405, 1p

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