Dominant Missense Variants in SREBF2 are Associated with Complex Dermatological, Neurological, and Skeletal Abnormalities.
Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A; Undiagnosed Diseases Network; Cole FS, Rios J, Bellen HJ.
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Genet Med. 2024 Jun 3:101174. doi: 10.1016/j.gim.2024.101174. Online ahead of print.
Genet Med. 2024.
PMID: 38847193