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Vater association with macrocephaly and ventriculomegaly

MedGen UID:: 413563
•Concept ID:: C2749240
•: Disease or Syndrome

Synonym:	Vater Association With Macrocephaly And Ventriculomegaly

OMIM®:	276950

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A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.

Reardon W, Zhou XP, Eng C
J Med Genet 2001 Dec;38(12):820-3. doi: 10.1136/jmg.38.12.820. PMID: 11748304 Free PMC Article

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Vater association with macrocephaly and ventriculomegaly
Vater association with macrocephaly and ventriculomegaly

MedGen
C2749240[conceptid] (1)
MedGen
C3887654[trait identifier] AND "OMIM"[submitter] (12)
ClinVar
C4310815[trait identifier] AND "OMIM"[submitter] (3)
ClinVar
C5882681[trait identifier] AND "OMIM"[submitter] (12)
ClinVar

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