Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature [0.03%]
通过狼-赫希霍恩相关DNA甲基化表型标记诊断的Rauch-Steindl综合征遗传未决病例
Haley McConkey,Alexandre White-Brown,Jennifer Kerkhof et al.
Haley McConkey et al.
Wolf-Hirschhorn syndrome (WHS) is caused by deletion of a critical region of the short arm of chromosome 4. Clinical features of WHS include distinct dysmorphic facial features, growth restriction, developmental delay, intellectual disabili...