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Ectrodactyly-cleft palate syndrome

MedGen UID:
342105
•Concept ID:
C1851848
•
Disease or Syndrome
Synonym: ECP syndrome
 
Monarch Initiative: MONDO:0007517
OMIM®: 129830
Orphanet: ORPHA1889

Recent clinical studies

Diagnosis

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.
Otsuki Y, Ueda K, Nuri T, Satoh C, Maekawa R, Yoshiura KI
Medicine (Baltimore) 2020 Oct 30;99(44):e22816. doi: 10.1097/MD.0000000000022816. PMID: 33126320Free PMC Article

Clinical prediction guides

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.
Otsuki Y, Ueda K, Nuri T, Satoh C, Maekawa R, Yoshiura KI
Medicine (Baltimore) 2020 Oct 30;99(44):e22816. doi: 10.1097/MD.0000000000022816. PMID: 33126320Free PMC Article

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