These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
144 related articles for article (PubMed ID: 36998968)
1. Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report. Shen R; Feng JH; Yang SP World J Clin Cases; 2023 Mar; 11(9):2036-2042. PubMed ID: 36998968 [TBL] [Abstract][Full Text] [Related]
2. Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. de Bruin C; Finlayson C; Funari MF; Vasques GA; Lucheze Freire B; Lerario AM; Andrew M; Hwa V; Dauber A; Jorge AA Horm Res Paediatr; 2016; 86(5):342-348. PubMed ID: 27245183 [TBL] [Abstract][Full Text] [Related]
3. Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in Tian F; Dong X; Yuan R; Hou X; Qing J; Li Y Front Pediatr; 2024; 12():1428513. PubMed ID: 39077065 [TBL] [Abstract][Full Text] [Related]
4. Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family. Quitter F; Flury M; Waldmueller S; Schubert T; Koehler K; Huebner A J Pediatr Endocrinol Metab; 2022 Nov; 35(11):1443-1447. PubMed ID: 35942587 [TBL] [Abstract][Full Text] [Related]
5. A Review of Three Chinese Cases of Acromicric/Geleophysic Dysplasia with FBN1 Mutations. Shan YC; Yang ZC; Ma L; Ran N; Feng XY; Liu XM; Fu P; Yi MJ Int J Gen Med; 2021; 14():1873-1880. PubMed ID: 34040419 [TBL] [Abstract][Full Text] [Related]
6. Evaluation of Clinical Characteristics and Growth Hormone Response in a Rare Skeletal Dysplasia: Pycnodysostosis. Ünsal Y; Atar S Cureus; 2023 Sep; 15(9):e44823. PubMed ID: 37809147 [TBL] [Abstract][Full Text] [Related]
7. A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. Cheng SW; Luk HM; Chu YWY; Tung YL; Kwan EY; Lo IF; Chung BH Eur J Med Genet; 2018 Apr; 61(4):219-224. PubMed ID: 29191498 [TBL] [Abstract][Full Text] [Related]
8. Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH. Chen M; Miao H; Liang H; Ke X; Yang H; Gong F; Wang L; Duan L; Chen S; Pan H; Zhu H Front Endocrinol (Lausanne); 2022; 13():820001. PubMed ID: 35250876 [TBL] [Abstract][Full Text] [Related]
9. Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review. Wang T; Yang Y; Dong Q; Zhu H; Liu Y Mol Genet Genomic Med; 2020 Jul; 8(7):e1282. PubMed ID: 32406602 [TBL] [Abstract][Full Text] [Related]
10. Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features. Hasegawa K; Numakura C; Tanaka H; Furujo M; Kubo T; Higuchi Y; Yamashita M; Tsukahara H J Pediatr Endocrinol Metab; 2017 Jan; 30(1):117-121. PubMed ID: 27935852 [TBL] [Abstract][Full Text] [Related]
11. Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia. Wang Y; Zhang H; Ye J; Han L; Gu X J Hum Genet; 2014 Oct; 59(10):563-7. PubMed ID: 25142510 [TBL] [Abstract][Full Text] [Related]
12. [Clinical phenotype and genetic analysis of six Chinese patients affected with Acromicric dysplasia due to variants of FBN1 gene]. Yu M; Liu X; Ran N; Yang Z; Shan Y Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Mar; 41(3):271-277. PubMed ID: 38448013 [TBL] [Abstract][Full Text] [Related]
13. Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Le Goff C; Mahaut C; Wang LW; Allali S; Abhyankar A; Jensen S; Zylberberg L; Collod-Beroud G; Bonnet D; Alanay Y; Brady AF; Cordier MP; Devriendt K; Genevieve D; Kiper PÖ; Kitoh H; Krakow D; Lynch SA; Le Merrer M; Mégarbane A; Mortier G; Odent S; Polak M; Rohrbach M; Sillence D; Stolte-Dijkstra I; Superti-Furga A; Rimoin DL; Topouchian V; Unger S; Zabel B; Bole-Feysot C; Nitschke P; Handford P; Casanova JL; Boileau C; Apte SS; Munnich A; Cormier-Daire V Am J Hum Genet; 2011 Jul; 89(1):7-14. PubMed ID: 21683322 [TBL] [Abstract][Full Text] [Related]
14. Orthopedics management of acromicric dysplasia: follow up of nine patients. Klein C; Le Goff C; Topouchian V; Odent S; Violas P; Glorion C; Cormier-Daire V Am J Med Genet A; 2014 Feb; 164A(2):331-7. PubMed ID: 24339047 [TBL] [Abstract][Full Text] [Related]
15. Geleophysic dysplasia caused by a mutation in Tao Y; Wei Q; Chen X; Nong GM World J Clin Cases; 2021 Aug; 9(24):7175-7180. PubMed ID: 34540975 [TBL] [Abstract][Full Text] [Related]
16. Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH. Ke X; Liang H; Miao H; Yang H; Wang L; Gong F; Pan H; Zhu H J Clin Endocrinol Metab; 2021 Jan; 106(2):431-441. PubMed ID: 33205215 [TBL] [Abstract][Full Text] [Related]
17. Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review. Liu S; Chen M; Yang H; Chen S; Wang L; Duan L; Zhu H; Pan H Front Endocrinol (Lausanne); 2021; 12():776835. PubMed ID: 34956087 [TBL] [Abstract][Full Text] [Related]
18. Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. McInerney-Leo AM; Le Goff C; Leo PJ; Kenna TJ; Keith P; Harris JE; Steer R; Bole-Feysot C; Nitschke P; Kielty C; Brown MA; Zankl A; Duncan EL; Cormier-Daire V J Med Genet; 2016 Jul; 53(7):457-64. PubMed ID: 27068007 [TBL] [Abstract][Full Text] [Related]
19. Short stature with brachydactyly caused by a novel mutation in the Chen Y; Yin M; Lu Y; Dong Z; Lu W; Lin L; Xiao Y Transl Pediatr; 2024 May; 13(5):856-863. PubMed ID: 38840672 [TBL] [Abstract][Full Text] [Related]
20. Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. Cecchi A; Ogawa N; Martinez HR; Carlson A; Fan Y; Penny DJ; Guo DC; Eisenberg S; Safi H; Estrera A; Lewis RA; Meyers D; Milewicz DM Am J Med Genet A; 2013 Sep; 161A(9):2305-10. PubMed ID: 23897642 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]