Dermatoosteoliz (qırǵız túri)

Dermatoosteoliz (qırǵız túri) — bul nárestelik dáwirinde baslanatuǵın hám tómendegi simptomlardıń qaytalanıwı menen sıpatlanatuǵın siyrek ushırasatuǵın, shamalanıwınsha, autosom-recessiv^[1] genetikalıq buzılıw bolıp tabıladı: teri jaraları, ulıwmalasqan artralgiya, temperaturanıń kóteriliwi, buwın átrapındaǵı jollı osteoliz, barlıq tislerdiń bolmawı, tırnaq distrofiyası hám keratit. Ádette, onıń awırlıq dárejesi balalıq dáwirine qaray tómenleydi, biraq bul waqıtqa kelip asqınıwlar rawajlanıp úlgeredi; bularǵa teridegi tırtıqlar, artrozlar, psevdoakromegalik qollar hám ayaqlar, skolioz hám kóriw qábiletiniń joǵalıwı kiredi^[2]^[3]. Bul jaǵday Qırǵızstanda saw-salamat ata-anadan tuwılǵan 5 tuwısqanda dáliylengen^[4]^[5].

Derekler

↑ «Dermatoosteolysis, Kirghizian type (Concept Id: C1857301) - MedGen - NCBI». www.ncbi.nlm.nih.gov. Qaraldı: 20-avgust 2022-jıl.
↑ RESERVED, INSERM US14-- ALL RIGHTS «Orphanet: Dermatoosteolysis, Kirghizian type» (en). www.orpha.net. Qaraldı: 20-avgust 2022-jıl.
↑ «Dermatoosteolysis Kirghizian type - About the Disease - Genetic and Rare Diseases Information Center» (en). rarediseases.info.nih.gov. Qaraldı: 20-avgust 2022-jıl.
↑ «Entry - 221810 - DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE - OMIM» (en-us). omim.org. Qaraldı: 20-avgust 2022-jıl.
↑ Kozlova, S. I.; Altshuler, B. A.; Kravchenko, V. L. (1983-06-01). "Self-limited autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia in a Kirghizian family". American Journal of Medical Genetics 15 (2): 205–210. doi:10.1002/ajmg.1320150204. ISSN 0148-7299. PMID 6224420.

[1] «Dermatoosteolysis, Kirghizian type (Concept Id: C1857301) - MedGen - NCBI». www.ncbi.nlm.nih.gov. Qaraldı: 20-avgust 2022-jıl.

[2] RESERVED, INSERM US14-- ALL RIGHTS «Orphanet: Dermatoosteolysis, Kirghizian type» (en). www.orpha.net. Qaraldı: 20-avgust 2022-jıl.

[3] «Dermatoosteolysis Kirghizian type - About the Disease - Genetic and Rare Diseases Information Center» (en). rarediseases.info.nih.gov. Qaraldı: 20-avgust 2022-jıl.

[4] «Entry - 221810 - DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE - OMIM» (en-us). omim.org. Qaraldı: 20-avgust 2022-jıl.

[5] Kozlova, S. I.; Altshuler, B. A.; Kravchenko, V. L. (1983-06-01). "Self-limited autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia in a Kirghizian family". American Journal of Medical Genetics 15 (2): 205–210. doi:10.1002/ajmg.1320150204. ISSN 0148-7299. PMID 6224420.

[1]

[2]

[3]

[4]

[5]