Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty | Orphanet Journal of Rare Diseases
Debuf MJ, Benoit V, Cassart M, Gajewska K, Gauquier N, Meunier C, et al. Agenesis of olfactory bulbs:…
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17q24 deletion
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