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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Front Pediatr
Egile Nagusiak: Dehghan Tezerjani, Masoud, Vahidi Mehrjardi, Mohammad Yahya, Hozhabri, Hossein, Rahmanian, Masoud
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Frontiers Media S.A. 2020
Gaiak:
Pediatrics
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7330014/
https://ncbi.nlm.nih.gov/pubmed/32671003
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.00340
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak