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22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype ) typical of a terminal deletion may be diagnosed as 22q13 ...
GeneReviews is an online database containing standardized peer-reviewed articles that describe specific heritable diseases. It was established in 1997 as GeneClinics by Roberta A Pagon ( University of Washington ) with funding from the National Institutes of Health . [ 1 ]
1 D 1:7,500 1q21.1 deletion syndrome: 1q21.1 D 2q37 deletion syndrome: 2q37 D 5q deletion syndrome: 5q D 5,10-methenyltetrahydrofolate synthetase deficiency: MTHFS [2] 7p22.1 microduplication syndrome: 7p22.1 17q12 microdeletion syndrome: 17q12 [3] [4] 1:14,000-62,500 17q12 microduplication syndrome: 17q12 [5] 18p deletion syndrome: 18p D 1:50,000
NNZ-2591 is a synthetic analog of cyclic glycine-proline and experimental drug developed for Angelman syndrome, Phelan-McDermid syndrome, Pitt Hopkins syndrome, [1] [2] and Prader-Willi syndrome. [ 3 ]
This page was last edited on 22 July 2006, at 23:58 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike 4.0 License; additional terms may ...
Macrocephaly is a condition in which circumference of the human head is abnormally large. [1] It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders .
PFIC-1 is caused by a variety of mutations in ATP8B1, a gene coding for a P-type ATPase protein, FIC-1, that is responsible for phospholipid translocation across membranes. [4] It was previously identified as clinical entities known as Byler's disease and Greenland-Eskimo familial cholestasis .
26395 Ensembl ENSG00000169032 ENSMUSG00000004936 UniProt Q02750 P31938 RefSeq (mRNA) NM_002755 NM_008927 RefSeq (protein) NP_002746 NP_032953 Location (UCSC) Chr 15: 66.39 – 66.49 Mb Chr 9: 64.09 – 64.16 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Dual specificity mitogen-activated protein kinase kinase 1 is an enzyme that in humans is encoded by the MAP2K1 gene. Function The ...