Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients

(2010) Nicole de Leeuw et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature

(2010) Amelia A. Keaton et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation

(2010) Jin S. Hahn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Novel missense mutations in the ubiquitination-related geneUBE2Acause a recognizable X-linked mental retardation syndrome

(2010) B Budny et al.   CLINICAL GENETICS

Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation

(2010) Shozo Honda et al.   JOURNAL OF HUMAN GENETICS

Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion ofSHH,TGIF,SIX3,GLI2,TP73L, andDHCR7as candidate genes

(2009) Roseli Maria Zechi-Ceide et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

(2009) Catheline Vilain et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Sculpturing digit shape by cell death

(2009) Juan A. Montero et al.   APOPTOSIS

Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2

(2009) Dezső David et al.   EUROPEAN JOURNAL OF HUMAN GENETICS