Cargando…
Clinical, biochemical, and genetic analysis of two Korean patients with Trichorhinophalangeal syndrome type I and growth hormone deficiency
Autores principales: | Sohn, Young Bae, Ki, Chang-Seok, Park, Sung Won, Cho, Sung-Yoon, Ko, Ah-Ra, Kwon, Min-Jung, Kim, Ji-Youn, Park, Hyung-Doo, Kim, Ok-Hwa, Jin, Dong-Kyu |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850268/ http://dx.doi.org/10.1186/1687-9856-2013-S1-P59 |
Ejemplares similares
-
Treatment of Hair Loss in the Trichorhinophalangeal Syndrome
por: Choi, Mi Soo, et al.
Publicado: (2018) -
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis
por: Yang, Mina, et al.
Publicado: (2017) -
Trichorhinophalangeal Syndrome
por: Vaccaro, Mario, et al.
Publicado: (2017) -
The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation
por: Huh, Hee Jae, et al.
Publicado: (2013) -
Two Novel Insulin Receptor Gene Mutations in a Patient with Rabson-Mendenhall Syndrome: The First Korean Case Confirmed by Biochemical, and Molecular Evidence
por: Kim, Doosoo, et al.
Publicado: (2012)