content:warburg_micro_syndrome

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content:warburg_micro_syndrome [2022/04/30 11:32] – changed pubmed syntax administrator@icnapedia.orgcontent:warburg_micro_syndrome [2022/04/30 11:55] (current) – [Warburg Micro syndrome] administrator@icnapedia.org
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   * characterized by severe intellectual disability, microcephaly, hypothalamic hypogonadism   * characterized by severe intellectual disability, microcephaly, hypothalamic hypogonadism
   * associated with mutations in at least four different genes, RAB18, RAB3GAP1, RAB3GAP2, or TCB1D20   * associated with mutations in at least four different genes, RAB18, RAB3GAP1, RAB3GAP2, or TCB1D20
-  * in 1993 Warburg used the term MICRO syndrome[(:cite:8249951>{{pmid>8249951}})] to describe an autosomal recessive syndrome comprising microcephaly, microcornea, congenital Cataract, mental retardation, optic atrophy, and hypogenitalism+  * in 1993 Warburg used the term MICRO syndrome[(:cite:8249951>{{pmid>long:8249951}})] to describe an autosomal recessive syndrome comprising microcephaly, microcornea, congenital Cataract, mental retardation, optic atrophy, and hypogenitalism
   * part of a spectrum of disease that includes [[Martsolf syndrome]] at the mild end. [[Martsolf syndrome]] is linked to mutations in [[https://ghr.nlm.nih.gov/gene/RAB3GAP2|RAB3GAP2]].   * part of a spectrum of disease that includes [[Martsolf syndrome]] at the mild end. [[Martsolf syndrome]] is linked to mutations in [[https://ghr.nlm.nih.gov/gene/RAB3GAP2|RAB3GAP2]].
  
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