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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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| Publicat a: | Ann Hum Genet |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2018
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| Matèries: | |
| Accés en línia: | 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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