Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion inKMT2A(MLL)

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

(2013) Sarah T. South et al.   GENETICS IN MEDICINE

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

(2012) Wendy D. Jones et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome

(2012) Chih-Ping Chen   Taiwanese Journal of Obstetrics & Gynecology

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Wiedemann-Steiner syndrome: Three further cases

(2010) Rainer Koenig et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hypertrichosis Cubiti: Another Case of a Well-Recognized but Under-Reported Entity

(2010) Zuriñe Martínez de Lagrán et al.   PEDIATRIC DERMATOLOGY