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Results 1 - 8 of 8 for Hypotrichosis 7
  1. ... Genetic Testing Registry: Hypotrichosis 6 Genetic Testing Registry: Hypotrichosis 7 National Organization for Rare Disorders (NORD) HYPOTRICHOSIS 8; HYPT8 HYPOTRICHOSIS 7; HYPT7 HYPOTRICHOSIS 6; HYPT6 PubMed Azeem Z, Jelani ...
  2. ... mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. Arch Dermatol Res. 2006 Aug;298(3):135-7. doi: 10.1007/s00403-006-0671-3. Epub ...
  3. ... receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). Hum Genet. 2008 Jun;123(5):515-9. doi: 10.1007/s00439-008-0507-7. Epub 2008 May 7. Citation on PubMed Khan ...
  4. ... of the condition. Appelt-Gerken-Lenz syndrome Hypomelia hypotrichosis facial hemangioma syndrome Pseudothalidomide syndrome RBS Roberts-SC ... J Med Genet. 2010 Jan;47(1):30-7. doi: 10.1136/jmg.2009.068395. Epub 2009 ...
  5. ... mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. Hum Mol Genet. 2015 Jan ...
  6. ... hair syndrome Comel-Netherton syndrome Ichthyosiform erythroderma with hypotrichosis and hyper-IgE Ichthyosis linearis circumflexa ILC NETH ... Int J Dermatol. 2006 Jun;45(6):693-7. doi: 10.1111/j.1365-4632.2005.02637. ...
  7. ... immune deficiency), elevated cancer risk, sparse hair growth (hypotrichosis), and other signs and symptoms of cartilage-hair ... a similar disorder known as metaphyseal dysplasia without hypotrichosis. This condition is characterized by short stature and ...
  8. ... to sweat (hypohidrosis), sparse scalp and body hair (hypotrichosis), and several missing teeth (hypodontia) or teeth that ... The major features of SSPS include missing teeth, hypotrichosis, palmoplantar keratoderma, and fluid-filled sacs (cysts) on ...