Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1

European Journal of Medical Genetics - Tập 62 - Trang 243-247 - 2019
Schaida Schirwani1, Antonio Novelli2, Maria Cristina Digilio2, David Bourn3, Valerie Wilson3, Catherine Roberts3, Bruno Dallapiccola2, Emma Hobson1
1Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK
2Medical Genetics Unit, Medical Genetics Laboratory, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy
3Northern Genetics Service, Institute of Genetic Medicine, Central Parkway, Newcastle Upon Tyne, UK

Tài liệu tham khảo

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