MECKEL Syndrome

Summarized by Plex Health
Last Updated: 05 May 2022
the meckel syndrome- associated protein mks1 functionally interacts with components of the bbsome and ift complexes to mediate ciliary trafficking and hedgehog signaling "the meckel syndrome- associated protein mks1 functionally interacts with components of the bbsome and ift complexes to mediate ciliary trafficking and hedgehog signaling", by . pone.0173399.g001: Loss of Bbs4 enhances Hh signaling phenotypes in Mks1krc mutant embryos.(A-D) Double heterozygous (A), Bbs4-/- (B), Mks1krc/krc (C), or Mks1krc/krc;Bbs4-/- double mutant (D) embryos at E13.5. Note that double mutant embryos exhibit microopthalmia, polydactyly,...

Meckel syndrome is a disorder with extreme signs and symptoms that affect many components of the body. Most affected individuals additionally have a buildup of scar tissue in the liver. Other signs and symptoms of Meckel syndrome differ extensively among affected people. Many irregularities of the brain and spinal cord have been reported in people with Meckel syndrome, including a group of abnormality referred to as neural tube defects. Meckel syndrome can cause troubles with growth of the eyes and other facial features, heart, bones, urinary system, and genitalia. Most individuals with Meckel syndrome die prior to or shortly after birth because of their serious health troubles.

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