Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.

Busche, Andreas

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. [electronic resource] - European journal of medical genetics - 256-61 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1878-0849

10.1016/j.ejmg.2011.02.002 doi


Abnormalities, Multiple--genetics
Adolescent
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 7--genetics
Comparative Genomic Hybridization
Face--abnormalities
Female
Growth Disorders--pathology
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotyping
Male
Microcephaly--pathology
Nuclear Proteins--genetics
Syndrome
Twist-Related Protein 1--genetics