A carregar...
McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family
McKusick-Kaufman syndrome (MKS, OMIM #236700) is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP), and congenital cardiac disease (CHD). The syndrome is caused by mutations in the MKKS gene mapped onto...
Na minha lista:
| Main Authors: | , , , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Medknow Publications
2011
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3214326/ https://ncbi.nlm.nih.gov/pubmed/22090721 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0971-6866.86194 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|