Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.

doi:10.1002/ajmg.a.38157

Back to search

Article

Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.

American journal of medical genetics. Part A - 1 May 2017

Silveira Karina C, Moreno Carolina A, Cavalcanti Denise P

Abstract excerpt

Since most short-rib polydactyly phenotypes are due to genes involved with biogenesis and maintenance of the primary cilium, this group of skeletal dysplasias was recently designated as ciliopathies with major skeletal involvement. Beemer-Langer syndrome or short-rib polydactyly type IV, was firs...

Topics

Adaptor Proteins, Signal Transducing
Alleles
Bone and Bones
Ciliopathies
Craniosynostoses
Cytoskeletal Proteins
Ectodermal Dysplasia
Fetus
Humans
Infant, Newborn
Mutation
Polydactyly
Proteins
Short Rib-Polydactyly Syndrome

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.