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