一个患有XLH且携带新突变的家族的表型。
Phenotypes of a family with XLH with a novel mutation.
作者信息
Yamamoto Akiko, Nakamura Toshiro, Ohata Yasuhisa, Kubota Takuo, Ozono Keiichi
机构信息
1Department of Pediatrics, Kumamoto Chuo Hospital, Kumamoto, Japan.
2Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
出版信息
Hum Genome Var. 2020 Mar 31;7:8. doi: 10.1038/s41439-020-0095-1. eCollection 2020.
X-linked hypophosphatemia (XLH) is the most common form of heritable hypophosphatemic rickets. We encountered a 4-year-old boy with a novel variant in the phosphate-regulating neutral endopeptidase homolog X-linked () gene who presented with a short stature, genu valgum, and scaphocephaly. The same mutation was identified in his mother and sister; however, the patient presented with a more severe case.
X连锁低磷血症（XLH）是遗传性低磷性佝偻病最常见的形式。我们遇到一名4岁男孩，其磷酸盐调节中性内肽酶同源物X连锁（）基因存在一种新的变异，表现为身材矮小、膝外翻和舟状头。在他的母亲和姐姐中也发现了相同的突变；然而，该患者的病情更为严重。
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