Two novel mutations in XYLT2 cause spondyloocular syndrome.

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Two novel mutations in XYLT2 cause spondyloocular syndrome.

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2017 nî lūn-bûn

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2017年学术文章

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Two novel mutations in XYLT2 cause spondyloocular syndrome.

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Two novel mutations in XYLT2 cause spondyloocular syndrome.

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Two novel mutations in XYLT2 cause spondyloocular syndrome.

@en

Two novel mutations in XYLT2 cause spondyloocular syndrome.

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Two novel mutations in XYLT2 cause spondyloocular syndrome.

@en

Two novel mutations in XYLT2 cause spondyloocular syndrome.

@nl

P1476

Two novel mutations in XYLT2 cause spondyloocular syndrome.

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P2093

Beyhan Tüysüz

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Feyza Darendeliler

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Firdevs Baş

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Nevbahar Tamçelik

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Nilay Güneş

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Nina Jäntti

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Outi Mäkitie

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Zehra Yavaş Abalı

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Şükran Poyrazoğlu

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P2860

Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

Xylosyltransferase II is a significant contributor of circulating xylosyltransferase levels and platelets constitute an important source of xylosyltransferase in serum.

New Genetic Forms of Childhood-Onset Primary Osteoporosis.

Osteoporosis and Bone Mass Disorders: From Gene Pathways to Treatments.

Xylosyltransferase II is the predominant isoenzyme which is responsible for the steady-state level of xylosyltransferase activity in human serum.

Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes.

Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias

Sitting height and sitting height/height ratio references for Turkish children.

P304

3195-3200

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scholarly article

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10.1002/AJMG.A.38470

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English

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173

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Fulya Taylan

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2017-09-08T00:00:00Z

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28884924

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