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A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter–Thompson type
Acromesomelic dysplasia is genetically heterogeneous group of skeletal disorders characterized by short stature and acromelia and mesomelia of limbs. Acromesomelic dysplasia segregates in an autosomal recessive pattern and is caused by biallelic sequence variants in three genes (NPR2, GDF5, and BMPR...
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| Publicado no: | Ann Hum Genet |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6141004/ https://ncbi.nlm.nih.gov/pubmed/29322508 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ahg.12233 |
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