Cargando…
Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in two Siblings
Otopalatodigital spectrum disorder (OPDSD) is rare group of X-linked disorders caused by mutations in the filamin A (FLNA) gene. It is characterized by skeletal dysplasia of variable severity and different extra skeletal manifestations. Its presentation in the fetal period is quite unspecific, so di...
Autores principales: | Joksic, I, Cuturilo, G, Jurisic, A, Djuricic, S, Peterlin, B, Mijovic, M, Karadzov, Orlic N, Egic, A, Milovanovic, Z |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sciendo
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956634/ https://www.ncbi.nlm.nih.gov/pubmed/31942422 http://dx.doi.org/10.2478/bjmg-2019-0024 |
Ejemplares similares
-
Combined presence of coagulation factor XIII V34L and plasminogen activator inhibitor 1 4G/5G gene polymorphisms significantly contribute to recurrent pregnancy loss in Serbian population
por: Joksic, Ivana, et al.
Publicado: (2020) -
Degree and Rate of Growth Discordance in Dichorionic Twins Conceived by In Vitro Fertilization
por: Egic, Amira S., et al.
Publicado: (2014) -
Can Thyroid Screening in the First Trimester Improve the Prediction of Gestational Diabetes Mellitus?
por: Milovanović, Zagorka, et al.
Publicado: (2022) -
Cutaneous Manifestations of Fanconi's Anemia in Two Siblings
por: Singh, Satyendra K., et al.
Publicado: (2017) -
Clinical Next Generation Sequencing Reveals an H3F3A Gene as a New Potential Gene Candidate for Microcephaly Associated with Severe Developmental Delay, Intellectual Disability and Growth Retardation
por: Maver, A, et al.
Publicado: (2019)