Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet. 2019 02 07; 104(2):213-228.

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subject areas

DNA Copy Number Variations
Female
Fibroblast Growth Factor 10
Gene Expression Regulation
Gestational Age
Humans
Infant, Newborn
Infant, Newborn, Diseases
Lung
Lung Diseases
Male
Maternal Inheritance
Organogenesis
Paternal Inheritance
Pedigree
Polymorphism, Single Nucleotide
Receptor, Fibroblast Growth Factor, Type 2
Signal Transduction
T-Box Domain Proteins

authors with profiles

PAWEL STANKIEWICZ
DARYL SCOTT
JAMES LUPSKI
FERNANDO SCAGLIA
PRZEMYSLAW SZAFRANSKI