TY  - GEN
AU  - Furtado,Larissa V
AU  - Bayrak-Toydemir,Pinar
AU  - Hulinsky,Becki
AU  - Damjanovich,Kristy
AU  - Carey,John C
AU  - Rope,Alan F
TI  - A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation
SN  - 1552-4833
PY  - 2011///0204
KW  - Abnormalities, Multiple
KW  - diagnostic imaging
KW  - Base Sequence
KW  - DNA Mutational Analysis
KW  - Fatal Outcome
KW  - Female
KW  - Genetic Diseases, X-Linked
KW  - Humans
KW  - Infant, Newborn
KW  - Inheritance Patterns
KW  - genetics
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Phenotype
KW  - Pregnancy
KW  - Radiography
KW  - Steroid Isomerases
KW  - Sterols
KW  - biosynthesis
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.33674
ER  -