Plantar lipomatosis, unusual facies, and developmental delay: Confirmation of Pierpont syndrome

American Journal of Medical Genetics

Volumn 137 A, Issue 1, 2005, Pages 77-80

  Oudesluijs, Grétel G ^a   Hordijk, Roel ^a   Boon, Maartje ^a   Sijens, Paul E ^a   Hennekam, Raoul C M ^b,c  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Autosomal dominant inheritance; Developmental delay; Pierpont syndrome; Plantar lipomatosis; X linked recessive inheritance

Indexed keywords

CHOLINE DERIVATIVE;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN THIRD VENTRICLE; CASE REPORT; CYTOGENETICS; DEVELOPMENTAL DISORDER; FACE MALFORMATION; FEEDING DISORDER; HUMAN; INFANT; LIPOMATOSIS; MALE; MIDFACE HYPOPLASIA; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PHENOTYPE; PIERPONT SYNDROME; PRIORITY JOURNAL; SKIN FIBROBLAST; SPEECH DEVELOPMENT; WHITE MATTER;

EID: 23344439022     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30863     Document Type: Article

References (5)

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