Jehee, Fernanda S

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. [electronic resource] - American journal of medical genetics. Part A Sep 2017 - 2451-2455 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.38315 doi


Adolescent
Base Sequence--genetics
Child
Chromosome Deletion
Chromosomes, Human, Pair 15--genetics
Comparative Genomic Hybridization
Exome--genetics
Facies
Female
Humans
Hyperventilation--diagnosis
Intellectual Disability--diagnosis
Obesity--diagnosis
Pathology, Molecular
Phenotype
Prader-Willi Syndrome--diagnosis
Transcription Factor 4--genetics
Twins, Monozygotic