UBE2A-related X-linked intellectual disability.
UBE2A-related X-linked intellectual disability.
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DOI：
10.1097/mcd.0000000000000242
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发表时间：
2019-01
影响因子：
0.7
通讯作者：
Schwartz CE
中科院分区：
文献类型：
--
作者：
Stevenson RE;Chudley AE;Srivastava AK;Rodriguez J;Friez MJ;Schwartz CE
UBE2A-related XLID is characterized by a distinctive facial phenotype (dense eyebrows and eyelashes, synophrys, hypertelorism, upslanted palpebral fissures, wide mouth and thin lips), generalized hirsutism, hypoplastic genitalia, short stature, hypotonia, seizures and severe intellectual disability. Five affected males in 2 families are described here and compared with the previously reported 17 males in 8 families. The new cases are notable for the absence of nail dystrophy, previously considered a defining manifestation, and for the presence of hypogammaglobulinemia and adult onset ataxia.
