Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses

pubmed: wnt1 2023-06-01

Summary:

Objective: To analyze the clinical and genetic characteristics of pediatric patients with dual genetic diagnoses (DGD). Methods: Clinical and genetic data of pediatric patients with DGD from January 2021 to February 2022 in Peking University First Hospital were collected and analyzed retrospectively. Results: Among the 9 children, 6 were boys and 3 were girls. The age of last visit or follow-up was 5.0 (2.7,6.8) years. The main clinical manifestations included motor retardation, mental...

Link:

https://pubmed.ncbi.nlm.nih.gov/37011981/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=16uwQpOeqFYN8R4TKOtwPy2utpqy9ex2oldalD2yF_fQHv2caq&fc=None&ff=20230601014330&v=2.17.9.post6+86293ac

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Exome ยป pubmed: wnt1

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Authors:

D D Tan, Y D Liu, Y B Fan, C J Wei, D Y Song, H P Yang, H Pan, W L Cui, S S Mao, X P Xu, X L Yu, B Cui, H Xiong

Date tagged:

06/01/2023, 01:43

Date published:

04/03/2023, 06:00