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Catel–Manzke syndrome: Further delineation of the phenotype associated with pathogenic variants in TGDS
Catel–Manzke syndrome is a rare autosomal recessive disorder characterized by Pierre Robin sequence with hyperphalangy and clinodactyly of the index finger. Recently, homozygous or compound heterozygous pathogenic variants in TGDS have been discovered to cause Catel–Manzke syndrome. Here, we describ...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4563870/ https://www.ncbi.nlm.nih.gov/pubmed/26366375 http://dx.doi.org/10.1016/j.ymgmr.2015.08.003 |