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Axenfeld–Rieger syndrome is a rare autosomal dominant [2] disorder, which affects the development of the teeth, eyes, and abdominal region. [3]Axenfeld–Rieger syndrome is part of the so-called iridocorneal or anterior segment dysgenesis syndromes, [4] which were formerly known as anterior segment cleavage syndromes, anterior chamber segmentation syndromes or mesodermal dysgenesis.
After months of testing, in September she was confirmed to have Axenfeld-Rieger Syndrome (ARS), a rare genetic disease affecting the eyes as well as other parts of the body, and leaving the child ...
2302 15223 Ensembl ENSG00000129654 ENSMUSG00000034227 UniProt Q92949 Q61660 RefSeq (mRNA) NM_001454 NM_008240 RefSeq (protein) NP_001445 NP_032266 Location (UCSC) Chr 17: 76.14 – 76.14 Mb Chr 11: 116.22 – 116.23 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Forkhead box protein J1 is a protein that in humans is encoded by the FOXJ1 gene. It is a member of the Forkhead/winged ...
Accepted examples of NCP are piebaldism, Waardenburg syndrome, Hirschsprung disease, Ondine's curse (congenital central hypoventilation syndrome), pheochromocytoma, paraganglioma, Merkel cell carcinoma, multiple endocrine neoplasia, neurofibromatosis type I, CHARGE syndrome, familial dysautonomia, DiGeorge syndrome, Axenfeld-Rieger syndrome ...
SHORT syndrome is an uncommon autosomal-dominant condition marked by ocular depression, Rieger anomaly, teething delay, small height, hyperextensibility of joints, and/or hernias. It was characterized in 1975.
Mutations in this gene are associated with Axenfeld-Rieger syndrome (ARS), iridogoniodysgenesis syndrome (IGDS), and sporadic cases of Peters anomaly. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes. [7] Pitx2 is overexpressed in many cancers.
18742 Ensembl n/a ENSMUSG00000025229 UniProt O75364 O35160 RefSeq (mRNA) NM_005029 NM_008852 RefSeq (protein) NP_005020 NP_032878 Location (UCSC) n/a Chr 19: 46.12 – 46.14 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Pituitary homeobox 3 is a protein that in humans is encoded by the PITX3 gene. Function This gene encodes a member of the RIEG/PITX homeobox family, which is in the ...
18740 Ensembl ENSG00000069011 ENSMUSG00000021506 UniProt P78337 P70314 RefSeq (mRNA) NM_002653 NM_011097 RefSeq (protein) NP_002644 NP_035227 Location (UCSC) Chr 5: 135.03 – 135.03 Mb Chr 13: 55.97 – 55.98 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene. Function This gene encodes a member of the ...