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...

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Detalles Bibliográficos
Autores principales: Pferdehirt, Rachel, Jain, Mahim, Blazo, Maria A., Lee, Brendan, Burrage, Lindsay C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Case Report
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

Internet

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

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