Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Bárcena, Clea ^a   Quesada, Víctor ^a   De Sandre Giovannoli, Annachiara ^b,c   Puente, Diana A ^a   Fernández Toral, Joaquín ^d   Sigaudy, Sabine ^b,c   Baban, Anwar ^e   Lévy, Nicolas ^b,c   Velasco, Gloria ^a   López Otín, Carlos ^a  

^a DEPARTAMENTO DE BIOQUÍMICA Y BIOLOGÍA MOLECULAR   (Spain)

^b AIX MARSEILLE UNIVERSITY   (France)

^c TIMONE HOSPITAL   (France)

^d HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Aging; Diabetes; Insulin; Kinase; Lipodystrophy; Progeria

Indexed keywords

PHOSPHOTYROSINE; PHOSPHATIDYLINOSITOL 3 KINASE; PIK3R1 PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BODY HEIGHT; BODY MASS; BONE AGE; CASE REPORT; CLINICAL FEATURE; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; HUMAN; LIPODYSTROPHY; LOW BIRTH WEIGHT; MALE; PIK3R1 GENE; SHORT SYNDROME; AMINO ACID SUBSTITUTION; CHEMICAL STRUCTURE; CHEMISTRY; FACIES; GENETICS; GROWTH DISORDER; HIGH THROUGHPUT SEQUENCING; HYPERCALCEMIA; INFANT; KIDNEY CALCIFICATION; METABOLIC DISORDER; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PROTEIN CONFORMATION;

AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXOME; FACIES; GROWTH DISORDERS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; HYPERCALCEMIA; INFANT; MALE; METABOLIC DISEASES; MODELS, MOLECULAR; MUTATION; NEPHROCALCINOSIS; PHENOTYPE; PHOSPHATIDYLINOSITOL 3-KINASES; PROTEIN CONFORMATION;

EID: 84900537480     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-51     Document Type: Article

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