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Results 1 - 10 of 55 for gland syndrome 1
  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 ...
  2. ... 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. ...
  3. ... individuals may also have abnormalities of the adrenal glands, which may ... Swyer syndrome (described above).NR5A1 gene variants that affect gonadal ...
  4. ... 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 ...
  5. ... 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 ...
  6. ... 15 percent of individuals with hyperparathyroidism-jaw tumor syndrome and in 1 ... glands and jaw, and still others cause only hyperparathyroidism. ...
  7. ... 8 that is deleted in people with trichorhinophalangeal syndrome type II (TRPS ... of exostosin-1 protein causes the osteochondromas in people with TRPS ...
  8. ... 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. ...
  9. ... 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 ...
  10. ... 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): ...
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