The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story

American Journal of Medical Genetics, Part A

Volumn 155, Issue 1, 2011, Pages 145-148

  Gurrieri, F ^a   Pomponi, M G ^a   Pietrobono, R ^a   Lucci Cordisco, E ^a   Silvestri, E ^b   Storniello, G ^b   Neri, G ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b SAN CAMILLO FORLANINI HOSPITAL   (Italy)

Author keywords

Simpson Golabi Behmel syndrome; The oldest patient

Indexed keywords

ARTICLE; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; FAMILY HISTORY; GENE MUTATION; GENE SEQUENCE; HEART MURMUR; HUMAN; MACROGLOSSIA; MACROSTOMIA; MALE; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROGNATHIA; SIMPSON GOLABI BEHMEL SYNDROME;

ARRHYTHMIAS, CARDIAC; BASE SEQUENCE; GIGANTISM; GLYPICANS; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INHERITANCE PATTERNS; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUSEUMS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 78650669625     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33586     Document Type: Article

References (9)

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