A newborn with overlapping features of AEC and EEC syndromes

American Journal of Medical Genetics, Part A

Volumn 155, Issue 12, 2011, Pages 3100-3103

  Celik, Tolga Hasan ^a   Buyukcam, Ayse ^a   Simsek Kiper, Pelin Ozlem ^a   Utine, Gulen Eda ^a   Ersoy Evans, Sibel ^a   Korkmaz, Ayse ^a   Yntema, Helger G ^b   Bodugroglu, Koray ^a   Yurdakok, Murat ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

AEC; Ankyloblepharon; Clefting; Ectodermal dysplasia; Ectrodactyly; EEC; Newborn

Indexed keywords

BISMUTH TRIBROMOPHENATE; DERMATOLOGICAL AGENT; DEXPANTHENOL; PETROLATUM; PSEUDOMONIC ACID; UNCLASSIFIED DRUG;

AEC SYNDROME; ANUS ATRESIA; ARTICLE; CASE REPORT; CLINICAL FEATURE; DEHYDRATION; DESQUAMATION; ECTRODACTYLY; EEC SYNDROME; ERYTHEMA; FEMALE; GENE MUTATION; HUMAN; HYPERNATREMIA; MARKER GENE; NEWBORN; NUCLEOTIDE SEQUENCE; POLYDACTYLY; PRIORITY JOURNAL; SKIN DEFECT; SYNDACTYLY; TP63 GENE; UREMIA;

AMINO ACID SUBSTITUTION; CLEFT LIP; CLEFT PALATE; ECTODERMAL DYSPLASIA; EYE ABNORMALITIES; EYELIDS; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; MUTATION; PHENOTYPE; TRANSCRIPTION FACTORS; TUMOR SUPPRESSOR PROTEINS;

FISTULA;

EID: 81955161813     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34328     Document Type: Article

References (8)

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