Clinical and molecular characterization of the first familial report of 1p32 microdeletion.

Schirwani, Schaida

Clinical and molecular characterization of the first familial report of 1p32 microdeletion. [electronic resource] - Clinical dysmorphology Apr 2018 - 36-41 p. digital

Publication Type: Journal Article

1473-5717

10.1097/MCD.0000000000000209 doi


Abnormalities, Multiple--genetics
Adult
Chromosome Deletion
Chromosomes, Human, Pair 1--genetics
Comparative Genomic Hybridization
DNA-Binding Proteins--genetics
Developmental Disabilities--genetics
Female
Humans
LDL-Receptor Related Proteins--genetics
Male
Microcephaly--genetics
Pedigree
Phenotype
Transcription Factors--genetics