A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.

Furtado, Larissa V

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. [electronic resource] - American journal of medical genetics. Part A Nov 2010 - 2838-44 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.33674 doi


Abnormalities, Multiple--diagnostic imaging
Base Sequence
DNA Mutational Analysis
Fatal Outcome
Female
Genetic Diseases, X-Linked--diagnostic imaging
Humans
Infant, Newborn
Inheritance Patterns--genetics
Male
Molecular Sequence Data
Mutation--genetics
Phenotype
Pregnancy
Radiography
Steroid Isomerases--genetics
Sterols--biosynthesis
Syndrome