Work

A clinical and molecular investigation of two families with Simpson-Golabi-Behmel syndrome

Year: 2014

Type: dissertation

Abstract: Comparison of the associated features in probands B and S compared with those frequently described in SGBS Associated features 1 Proband B Proband S Macrosomia Yes No Congenital heart disease Yes Yes Conduction defects No No Supernumerary nipples No No

Source: Open University of Cape Town (University of Cape Town)

Author: Careni Elizabeth Pretorius

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2885639309

Cites: 13

Cited by:

Related to: 10