Lig4 Syndrome (LIG4S)

Lig4 Syndrome(来自ICD-11)
别称:
Dna Ligase Iv Deficiency
Ligase 4 Syndrome
Lig4s
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Lig4 Syndrome, also known as dna ligase iv deficiency, is related to nijmegen breakage syndrome and immune deficiency disease. An important gene associated with Lig4 Syndrome is LIG4 (DNA Ligase 4), and among its related pathways/superpathways are Homology Directed Repair and DNA Damage. Affiliated tissues include skin and bone marrow, and related phenotypes are global developmental delay and microcephaly
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基础信息

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参考文献
MALACARDS
AR
Newborn
<1/1000000
24
297
34

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