PMC Articles for MedGen (Select 376281) - PMC - NCBI

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Items: 5

Select item 49081501.

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia

Sung Yoon Cho, Jun-Seok Bae, Nayoung K.D. Kim, Francesca Forzano, Katta Mohan Girisha, Chiara Baldo, Francesca Faravelli, Tae-Joon Cho, Dongsup Kim, Kyoung Yeul Lee, Shiro Ikegawa, Jong Sup Shim, Ah-Ra Ko, Noriko Miyake, Gen Nishimura, Andrea Superti-Furga, Jürgen Spranger, Ok-Hwa Kim, Woong-Yang Park, Dong-Kyu Jin

Am J Hum Genet. 2016 Jun 2; 98(6): 1243–1248. Published online 2016 May 26. doi: 10.1016/j.ajhg.2016.04.004

PMCID:: PMC4908150

Abstract Article PDF–808K

Select item 10498682.

New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family.

G Camera, G Stella, A Camera

J Med Genet. 1994 May; 31(5): 371–376. doi: 10.1136/jmg.31.5.371

PMCID:: PMC1049868

Summary Page Browse PDF–2.4M

Select item 16987833.

Functional Knockout of the Matrilin-3 Gene Causes Premature Chondrocyte Maturation to Hypertrophy and Increases Bone Mineral Density and Osteoarthritis

Louise van der Weyden, Lei Wei, Junming Luo, Xu Yang, David E. Birk, David J. Adams, Allan Bradley, Qian Chen

Am J Pathol. 2006 Aug; 169(2): 515–527. doi: 10.2353/ajpath.2006.050981

PMCID:: PMC1698783

Abstract Article PDF–3.2M

Select item 101931574.

Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco

Larissa Mattern, Matthias Begemann, Heide Delbrück, Petra Holschbach, Silvia Schröder, Sabine M. Schacht, Ingo Kurth, Miriam Elbracht

Bone Rep. 2023 Jun; 18: 101683. Published online 2023 May 4. doi: 10.1016/j.bonr.2023.101683

PMCID:: PMC10193157

Abstract Article PDF–3.7M

Select item 99727835.

IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)

Pauline De Kinderen, Silke Peeters, Laura Rabaut, Geert Mortier, Peter Ponsaerts, Bart Loeys, Aline Verstraeten, Josephina A.N. Meester

Stem Cell Res. 2023 Mar; 67: 103024. doi: 10.1016/j.scr.2023.103024

PMCID:: PMC9972783

Abstract Article

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PMC Articles for MedGen (Select 376281) (5)
PMC
Related Entries for OMIM (Select 615700) (10)
OMIM
capsid assembly protein gp31 [Escherichia phage RB69]
capsid assembly protein gp31 [Escherichia phage RB69]
gi|20805899|gb|AAM28886.1|AF506707_

Protein
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (plastid)...
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (plastid) [Pterocladiella sp. 4]
gi|2177158735|gb|UIR91034.1|

Protein
MULTISPECIES: tRNA pseudouridine(38-40) synthase TruA [Methylophaga]
MULTISPECIES: tRNA pseudouridine(38-40) synthase TruA [Methylophaga]
gi|2518052580|ref|WP_284722433.1|

Protein

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