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Hypotrichosis 7
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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. ...
- ... 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 ...
- ... 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 ...
- ... features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis); brittle nails; and a skin condition called palmoplantar ... oculodentodigital dysplasia. Mol Genet Genomic Med. 2019 Sep;7(9):e882. doi: 10.1002/mgg3.882. Epub ...
- ... mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. Hum Mol Genet. 2015 Jan ...