An infantile case of Zellweger syndrome presented with Kabuki-like phenotype

Genetic Counseling

Volumn 22, Issue 2, 2011, Pages 217-220

  Ezgu, Fatih ^a   Eminoglu, T ^a   Okur, I ^a   Gunduz, M ^b   Tumer, L ^a   Hasanoglu, A ^a   Dalgic, B ^a  

^a GAZI UNIVERSITY   (Turkey)

^b MINISTRY OF HEALTH   (Turkey)

Author keywords

Kabuki like phenotype; Zellweger syndrome

Indexed keywords

PHYTANIC ACID; VERY LONG CHAIN FATTY ACID;

ARTICLE; BICUSPID AORTIC VALVE; BONE DENSITOMETRY; CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; ECHOCARDIOGRAPHY; EVOKED BRAIN STEM AUDITORY RESPONSE; HEPATOMEGALY; HUMAN; INFANT DISEASE; KABUKI MAKEUP SYNDROME; MALE; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPENIA; PALPEBRAL FISSURE ANOMALY; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; STRABISMUS; TELANGIECTASIA; TENDON REFLEX; TRICUSPID VALVE REGURGITATION; VEIN MALFORMATION; ZELLWEGER SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FACE; HEMATOLOGIC DISEASES; HUMANS; LIVER; LIVER FUNCTION TESTS; MALE; PHENOTYPE; VESTIBULAR DISEASES; ZELLWEGER SYNDROME;

EID: 79960749404     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

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