Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q)

American Journal of Medical Genetics

Volumn 135 A, Issue 1, 2005, Pages 99-102

  Orrico, Alfredo ^a   Galli, Lucia ^a   Buoni, Sabrina ^b   Hayek, Giuseppe ^a   Luchetti, Anna ^c   Lorenzini, Stefania ^b   Zappella, Michele ^a   Pomponi, Maria Grazia ^d   Sorrentino, Vincenzo ^a,b  

^a UNIVERSITY HOSPITAL OF SIENA   (Italy)

^b UNIVERSITY OF SIENA   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

Author keywords

Aarskog Scott syndrome; ADHD; Behavioral disorder; Clinical variability; FGD1 gene

Indexed keywords

ADOLESCENT; ARTICLE; ATTENTION DEFICIT DISORDER; BRACHYDACTYLY; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE SEVERITY; FACE DYSMORPHIA; FACIOGENITAL DYSPLASIA; FGD1 GENE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; HUMAN; INTELLIGENCE QUOTIENT; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; UROGENITAL TRACT MALFORMATION; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; FACE; FINGERS; GROWTH DISORDERS; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MALE; MUTATION, MISSENSE; PROTEINS; SYNDROME; UROGENITAL ABNORMALITIES;

EID: 18244409911     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30700     Document Type: Article

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