Načítá se...

A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation

We describe a girl of Pakistani origin, born to consanguineous parents, with a multiple congenital anomaly (MCA) syndrome. This is the second report confirming an apparently new autosomal recessive syndrome reported earlier by van den Ende et al in 1992. The hallmarks of this MCA syndrome include ch...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Gupta, Ajay, Hall, Christine M, Ransley, Yvonne F, Murday, Victoria A
Médium: Artigo
Jazyk:Inglês
Vydáno: 1995
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051707/
https://ncbi.nlm.nih.gov/pubmed/8558561
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!