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A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency |
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Titel: |
A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency |
Auteur: |
Macchiaroli, Annamaria Kelberman, Daniel Auriemma, Renata Simona Drury, Suzanne Islam, Lily Giangiobbe, Sara Ironi, Gabriele Lench, Nicholas Sowden, Jane C. Colao, Annamaria Pivonello, Rosario Cavallo, Luciano Gasperi, Maurizio Faienza, Maria Felicia |
Verschenen in: |
Gene |
Paginering: |
Jaargang 534 (2014) nr. 2 pagina's 4 p. |
Jaar: |
2014 |
Inhoud: |
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Uitgever: |
Elsevier B.V. |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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