Atıf İçin Kopyala
Baetens D., Güran T., Mendonca B. B., Gomes N. L., De Cauwer L., Peelman F., ...Daha Fazla
GENETICS IN MEDICINE, cilt.20, sa.7, ss.717-727, 2018 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
20
Sayı:
7
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Basım Tarihi:
2018
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Doi Numarası:
10.1038/gim.2017.163
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Dergi Adı:
GENETICS IN MEDICINE
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Sayfa Sayıları:
ss.717-727
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Anahtar Kelimeler:
46,XY DSD, disorders of sex development, ESR2 variants, novel candidate gene, whole-exome sequencing, ESTROGEN-RECEPTOR BETA, CRYSTAL-STRUCTURE, BINDING DOMAIN, HYPOSPADIAS, MUTATIONS, GENES, POLYMORPHISMS, COMPLEXES, PATHWAYS, RISK
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Marmara Üniversitesi Adresli:
Evet
Özet
Purpose: Disorders or differences of sex development (DSDs) are rare congenital conditions characterized by atypical sex development. Despite advances in genomic technologies, the molecular cause remains unknown in 50% of cases.