198 related articles for article (PubMed ID: 24668659)
1. Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.
von Oettingen JE; Tan WH; Dauber A
Am J Med Genet A; 2014 Jun; 164A(6):1580-6. PubMed ID: 24668659
[TBL] [Abstract][Full Text] [Related]
2. A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.
Jones KL; Schwarze U; Adam MP; Byers PH; Mefford HC
Am J Med Genet A; 2015 Nov; 167A(11):2691-6. PubMed ID: 26086840
[TBL] [Abstract][Full Text] [Related]
3. The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.
Colman M; Van Damme T; Steichen-Gersdorf E; Laccone F; Nampoothiri S; Syx D; Guillemyn B; Symoens S; Malfait F
Orphanet J Rare Dis; 2019 Jun; 14(1):138. PubMed ID: 31196143
[TBL] [Abstract][Full Text] [Related]
4. B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient.
Bolund ACS; Langdahl B; Laurberg TB; Hellfritzsch MB; Gjørup H; Møller-Madsen B; Nielsen TØ; Farholt S; Gregersen PA
Eur J Med Genet; 2021 Dec; 64(12):104342. PubMed ID: 34537402
[TBL] [Abstract][Full Text] [Related]
5. Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
Ritelli M; Cinquina V; Giacopuzzi E; Venturini M; Chiarelli N; Colombi M
Genes (Basel); 2019 Aug; 10(9):. PubMed ID: 31438591
[TBL] [Abstract][Full Text] [Related]
6. Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
Alessandri JL; Celse T; Spodenkiewicz M; Calaya A; Dumont C; Jacquemont ML; Bertaut-Nativel B; Boumahni B; Rémy M; Ferroul F; Guilly S; Huby T; Irabé M; Laurens T; Munier P; Morel G; Payet F; Randrianaivo H; Doray B; Dospeux J
Eur J Med Genet; 2024 Jun; 69():104940. PubMed ID: 38705458
[TBL] [Abstract][Full Text] [Related]
7. Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
Job F; Mizumoto S; Smith L; Couser N; Brazil A; Saal H; Patterson M; Gibson MI; Soden S; Miller N; Thiffault I; Saunders C; Yamada S; Hoffmann K; Sugahara K; Farrow E
BMC Med Genet; 2016 Nov; 17(1):86. PubMed ID: 27871226
[TBL] [Abstract][Full Text] [Related]
8. Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Budde BS; Mizumoto S; Kogawa R; Becker C; Altmüller J; Thiele H; Rüschendorf F; Toliat MR; Kaleschke G; Hämmerle JM; Höhne W; Sugahara K; Nürnberg P; Kennerknecht I
Hum Genet; 2015 Jul; 134(7):691-704. PubMed ID: 25893793
[TBL] [Abstract][Full Text] [Related]
9. Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.
Mihalic Mosher T; Zygmunt DA; Koboldt DC; Kelly BJ; Johnson LR; McKenna DS; Hood BC; Hickey SE; White P; Wilson RK; Martin PT; McBride KL
Eur J Hum Genet; 2019 Oct; 27(10):1569-1577. PubMed ID: 31278392
[TBL] [Abstract][Full Text] [Related]
10. Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
Byrne AB; Mizumoto S; Arts P; Yap P; Feng J; Schreiber AW; Babic M; King-Smith SL; Barnett CP; Moore L; Sugahara K; Mutlu-Albayrak H; Nishimura G; Liebelt JE; Yamada S; Savarirayan R; Scott HS
J Med Genet; 2020 Jul; 57(7):454-460. PubMed ID: 31988067
[TBL] [Abstract][Full Text] [Related]
11. Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes.
Taylan F; Mäkitie O
Horm Metab Res; 2016 Nov; 48(11):745-754. PubMed ID: 27871115
[TBL] [Abstract][Full Text] [Related]
12. Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review.
Li Y; Zhang C; Zhang H; Feng W; Wang Q; Fan R
BMC Med Genomics; 2022 Feb; 15(1):27. PubMed ID: 35151321
[TBL] [Abstract][Full Text] [Related]
13. B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.
Yauy K; Tran Mau-Them F; Willems M; Coubes C; Blanchet P; Herlin C; Taleb Arrada I; Sanchez E; Faure JM; Le Gac MP; Prodhomme O; Boland A; Meyer V; Rivière JB; Duffourd Y; Deleuze JF; Guignard T; Captier G; Barat-Houari M; Genevieve D
Genet Med; 2018 Feb; 20(2):269-274. PubMed ID: 28771243
[TBL] [Abstract][Full Text] [Related]
14. Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
Baasanjav S; Al-Gazali L; Hashiguchi T; Mizumoto S; Fischer B; Horn D; Seelow D; Ali BR; Aziz SA; Langer R; Saleh AA; Becker C; Nürnberg G; Cantagrel V; Gleeson JG; Gomez D; Michel JB; Stricker S; Lindner TH; Nürnberg P; Sugahara K; Mundlos S; Hoffmann K
Am J Hum Genet; 2011 Jul; 89(1):15-27. PubMed ID: 21763480
[TBL] [Abstract][Full Text] [Related]
15. Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Arunrut T; Sabbadini M; Jain M; Machol K; Scaglia F; Slavotinek A
Am J Med Genet A; 2016 Oct; 170(10):2711-8. PubMed ID: 27320698
[TBL] [Abstract][Full Text] [Related]
16. Further defining the phenotypic spectrum of B4GALT7 mutations.
Salter CG; Davies JH; Moon RJ; Fairhurst J; Bunyan D; ; Foulds N
Am J Med Genet A; 2016 Jun; 170(6):1556-63. PubMed ID: 26940150
[TBL] [Abstract][Full Text] [Related]
17. Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.
Guo MH; Stoler J; Lui J; Nilsson O; Bianchi DW; Hirschhorn JN; Dauber A
Am J Med Genet A; 2013 Oct; 161A(10):2519-27. PubMed ID: 23956117
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.
Sellars EA; Bosanko KA; Lepard T; Garnica A; Schaefer GB
Semin Pediatr Neurol; 2014 Jun; 21(2):84-7. PubMed ID: 25149931
[TBL] [Abstract][Full Text] [Related]
20. Novel Splicing Mutation in
Bloor S; Giri D; Didi M; Senniappan S
Case Rep Genet; 2017; 2017():3941483. PubMed ID: 29318063
[No Abstract] [Full Text] [Related]
[Next] [New Search]
