2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features

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

Elements of morphology: Standard terminology for the hands and feet

(2009) Leslie G. Biesecker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Elements of morphology: Standard terminology for the ear

(2009) Alasdair Hunter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Elements of morphology: Standard terminology for the periorbital region

(2009) Bryan D. Hall et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Elements of morphology: Standard terminology for the nose and philtrum

(2009) Raoul C.M. Hennekam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Elements of morphology: Standard terminology for the lips, mouth, and oral region

(2009) John C. Carey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Elements of morphology: Standard terminology for the head and face

(2009) Judith E. Allanson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

(2009) Bregje WM van Bon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment and seizures

(2009) Stephen R Williams et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel microdeletion syndromes detected by chromosome microarrays

(2008) Anne M. Slavotinek   HUMAN GENETICS

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

(2008) S Jaillard et al.   JOURNAL OF MEDICAL GENETICS