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.
129 related articles for article (PubMed ID: 35942587)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment. Jin HS; Song HY; Cho SY; Ki CS; Yang SH; Kim OH; Kim SJ Ann Lab Med; 2017 Jan; 37(1):92-94. PubMed ID: 27834076 [No Abstract] [Full Text] [Related]
8. 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]
9. 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]
10. [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]
11. 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]
13. Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. Kochhar A; Kirmani S; Cetta F; Younge B; Hyland JC; Michels V Am J Med Genet A; 2013 Dec; 161A(12):3130-2. PubMed ID: 24214363 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders. Intarak N; Theerapanon T; Thaweesapphithak S; Suphapeetiporn K; Porntaveetus T; Shotelersuk V Mol Genet Genomics; 2019 Jun; 294(3):773-787. PubMed ID: 30887145 [TBL] [Abstract][Full Text] [Related]
16. Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome. Arnaud P; Mougin Z; Baujat G; Drouin-Garraud V; El Chehadeh S; Gouya L; Odent S; Jondeau G; Boileau C; Hanna N; Le Goff C J Med Genet; 2024 Apr; 61(5):469-476. PubMed ID: 38458756 [TBL] [Abstract][Full Text] [Related]
17. Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia. Hubmacher D; Taye N; Balic Z; Thacker S; Adams SM; Birk DE; Schweitzer R; Apte SS Matrix Biol; 2019 Sep; 82():38-53. PubMed ID: 30738849 [TBL] [Abstract][Full Text] [Related]
19. A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. Lee T; Takeshima Y; Okizuka Y; Hamahira K; Kusunoki N; Awano H; Yagi M; Sakai N; Matsuo M; Iijima K Gene; 2013 Jan; 512(2):456-9. PubMed ID: 23124041 [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]