Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome

Silver-Russell syndrome (SRS, OMIM 180860) is a rare imprinting disorder characterized by intrauterine and postnatal growth restriction, feeding difficulties in early childhood, characteristic facial features, and body asymmetry. The molecular cause most commonly relates to hypomethylation of the im...

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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Petra Loid, Marita Lipsanen-Nyman, Sirpa Ala-Mello, Katariina Hannula-Jouppi, Juha Kere, Outi Mäkitie, Mari Muurinen
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Frontiers Media S.A. 2022-10-01
Цуврал:	Frontiers in Pediatrics
Нөхцлүүд:	IGF2 short stature Silver-Russell intrauterine growth restriction exome sequencing
Онлайн хандалт:	https://www.frontiersin.org/articles/10.3389/fped.2022.969881/full
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!