Condition: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE


rs1561299903 in PIK3R1 gene and AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE PMID 24886349 2014 Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.

PMID 23810378 2013 PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

PMID 23810382 2013 Mutations in PIK3R1 cause SHORT syndrome.

PMID 26974159 2016 PI3-kinase mutation linked to insulin and growth factor resistance in vivo.

PMID 23980586 2014 PIK3R1 mutations in SHORT syndrome.

PMID 28632845 2017 Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase.

PMID 23810379 2013 SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 27766312 2016 Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.

PMID 25133428 2014 A human immunodeficiency caused by mutations in the PIK3R1 gene.

PMID 22351933 2012 Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.

PMID 25488983 2014 Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.

PMID 26529633 2016 De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly.