A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II)

Background: Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is an autosomal recessive and skeletal disorder included wide spectrum of clinical abnormalities such as fetal growth restriction, disproportionate face, microcephaly, post-natal growth retardation, adult height under 10...

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Detalles Bibliográficos
Autores principales: Dehghan Tezerjani, Masoud, Vahidi Mehrjardi, Mohammad Yahya, Hozhabri, Hossein, Rahmanian, Masoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7330014/
https://www.ncbi.nlm.nih.gov/pubmed/32671003
http://dx.doi.org/10.3389/fped.2020.00340

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7330014/
https://www.ncbi.nlm.nih.gov/pubmed/32671003
http://dx.doi.org/10.3389/fped.2020.00340

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