常染色体劣性無汗性外胚葉形成不全
WordNet
- (of genes) producing its characteristic phenotype only when its allele is identical
- of or relating to an autosome; "autosomal gene"
- of or relating to the ectoderm (同)ectodermic
- abnormal development (of organs or cells) or an abnormal structure resulting from such growth
- the outer germ layer that develops into skin and nervous tissue (同)exoderm, ectoblast
PrepTutorEJDIC
- 後退する,退行の / (遺伝が)劣性の / 劣性遺伝形質
UpToDate Contents
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- 1. 外胚葉異形成症ectodermal dysplasias [show details]
…X-inactivation. Males and females are equally affected in the autosomal dominant and recessive forms of HED. Most hypohidrotic ectodermal dysplasia cases are X-linked (XLHED, MIM #305100). XLHED is caused …
- 2. 遺伝性皮膚疾患:概要the genodermatoses an overview [show details]
… The classic ectodermal dysplasias, including hypohidrotic ectodermal dysplasia, hypohidrotic ectodermal dysplasia with immune deficiency, and hidrotic ectodermal dysplasia; tumor protein… autosomal recessive disorder caused by mutations in any of eight genes…
- 3. 抗酸菌易感染性を示すメンデル型遺伝性疾患:特異的な遺伝子異常mendelian susceptibility to mycobacterial diseases specific defects [show details]
…(IFNGR2, gene encoded on chromosome 21q22.1-q22.2) Autosomal recessive (AR) defects in IFNGR1 and IFNGR2 result in complete or partial deficiencies. Autosomal dominant (AD) inheritance resulting in partial …
- 4. 先天性掌蹠角化症hereditary palmoplantar keratodermas [show details]
… (hidrocystomas) and an increased risk of skin tumors . Ectodermal dysplasia/skin fragility syndrome and skin fragility/woolly hair syndrome are rare autosomal recessive disorders caused by mutations in PKP1, encoding …
- 5. 腫瘍タンパク質p63関連疾患tumor protein p63 related disorders [show details]
…representative examples of this group of ectodermal dysplasias. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3 syndrome) is an autosomal dominant disorder characterized by split …
English Journal
- Hypohidrotic ectodermal dysplasia: clinical and molecular review.
- Reyes-Reali J1, Mendoza-Ramos MI1, Garrido-Guerrero E2, Méndez-Catalá CF3, Méndez-Cruz AR1, Pozo-Molina G4.
- International journal of dermatology.Int J Dermatol.2018 Aug;57(8):965-972. doi: 10.1111/ijd.14048. Epub 2018 May 31.
- PMID 29855039
- AuthorsWright JT1, Grange DK2, Fete M3.
- Open/close author information list" class="jig-ncbitoggler" href="#
- PMID 20301291
- [Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].
- Callea M1, Cammarata-Scalisi F2, Willoughby CE3, Giglio SR4,5, Sani I4, Bargiacchi S4, Traficante G4, Bellacchio E6, Tadini G7,8, Yavuz I9, Galeotti A10, Clarich G11.
- Archivos argentinos de pediatria.Arch Argent Pediatr.2017 Feb 1;115(1):e34-e38. doi: 10.5546/aap.2017.e34.
- PMID 28097853
Japanese Journal
- Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
Related Pictures
★リンクテーブル★
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- 英
- autosomal recessive hypohidrotic ectodermal dysplasia
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- 関
- inferior、recessively、recessiveness
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- 関
- autosomal recessive inheritance
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- 関
- autosomally、autosome
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- 関
- ectoderm、ectomorphic
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- 関
- hypohidrosis