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gland syndrome 1
- ... other uncontrolled movements; severe breathing difficulty (respiratory distress syndrome); and reduced thyroid gland function (hypothyroidism).Many of the NKX2-1 gene mutations involved in brain-lung-thyroid syndrome ...
- ... Citation on PubMed Rishi K, Font RL. Sebaceous gland tumors of the eyelids and conjunctiva in the Muir-Torre syndrome: a clinicopathologic study of five cases and literature review. Ophthalmic Plast Reconstr Surg. 2004 Jan;20(1):31-6. doi: 10.1097/01.IOP.0000103009. ...
- ... individuals may also have abnormalities of the adrenal glands, which may ... Swyer syndrome (described above).NR5A1 gene variants that affect gonadal ...
- ... of the heart, structures in the ear, and glands such as the thymus and parathyroid. Although T-box protein 1 acts as a transcription factor, researchers have not determined which genes are regulated by this protein. Most cases of 22q11.2 deletion syndrome are caused by a deletion of a small ...
- ... widespread in the body as in McCune-Albright syndrome (described above), the abnormal growth is confined to a ... G alpha protein AHO C20orf45 dJ309F20.1.1 dJ806M20.3.3 GNAS1 GNAS1_HUMAN GNASXL ...
- ... 15 percent of individuals with hyperparathyroidism-jaw tumor syndrome and in 1 ... glands and jaw, and still others cause only hyperparathyroidism. ...
- ... 8 that is deleted in people with trichorhinophalangeal syndrome type II (TRPS ... of exostosin-1 protein causes the osteochondromas in people with TRPS ...
- ... alpha reductase Tests of SRD5A2 PubMed POLYCYSTIC OVARY SYNDROME 1; PCOS1 PROSTATE CANCER STEROID 5-ALPHA-REDUCTASE 2; ... Azziz R. Variants in the 5alpha-reductase type 1 and type 2 genes are associated with polycystic ovary syndrome and the severity of hirsutism in affected women. ...
- ... R, Venkatachalam S, Karthikeyan B, Babu MR. Trichorhinophalangeal syndrome type 1: A case report with literature review. J Nat ... a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet. 2000 Jan;24(1):71-4. doi: 10.1038/71717. Citation on ...
- ... gene and is allelic to cold-induced sweating syndrome type 1. Am J Hum Genet. 2007 May;80(5): ... Daire V. Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. Am J Hum Genet. 2007 May;80(5): ...