Related Experiment Videos

Congenital anomalies including the VATER association in a patient with del(6)q deletion

R M McNeal, R R Skoglund, U Francke

The Journal of Pediatrics

|December 1, 1977

Abstract

No abstract available in PubMed .

Related Concept Videos

Articles linked to this work by shared authors, journal, and citation graph.

The new Ghent criteria for Marfan syndrome: what do they change?

Clinical genetics·2011

Chromosomal assignment of three human melanocyte-specific genes.

International journal of oncology·2011

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.

American journal of medical genetics. Part A·2009

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

European journal of human genetics : EJHG·2008

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

Clinical genetics·2008

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

Journal of medical genetics·2008

See all related articles