Trichothiodystrophy in a Child with Occult Learning Disorder

Trichothiodystrophy (TTD) is an autosomal recessive condition characterized by brittle and sparse sulfur deficient hair. The disorder is due to a known genetic mutation in DNA nucleotide excision repair (NER) in up to 83% of cases. We describe a 13-month-old girl presenting with hair fragility and h...

Descripción completa

Detalles Bibliográficos
Autores principales: Oon, Hazel H, Sze Chan, Agnes Wai, See Lee, Joyce Siong, Leow, Yung Hian, Giam, Yoke Chin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746226/
https://www.ncbi.nlm.nih.gov/pubmed/23960396
http://dx.doi.org/10.4103/0974-7753.114717

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746226/
https://www.ncbi.nlm.nih.gov/pubmed/23960396
http://dx.doi.org/10.4103/0974-7753.114717

Ejemplares similares