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Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia
The recessively inherited developmental disorder, cartilage-hair hypoplasia (CHH) is highly pleiotropic with manifestations including short stature, defective cellular immunity, and predisposition toExpand
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Glucose regulation in young adults with very low birth weight.
BACKGROUND The association between small size at birth and impaired glucose regulation later in life is well established in persons born at term. Preterm birth with very low birth weight (<1500 g) isExpand
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Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare multisystem disorder characterized by extensive intracranial calcifications and cysts, leukoencephalopathy, and retinalExpand
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A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
Infantile cortical hyperostosis (Caffey disease) is characterized by spontaneous episodes of subperiosteal new bone formation along 1 or more bones commencing within the first 5 months of life. AExpand
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Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
Background Split-hand/foot malformation (SHFM)—also known as ectrodactyly—is a congenital disorder characterised by severe malformations of the distal limbs affecting the central rays of hands and/orExpand
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Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patients
Cartilage-hair hypoplasia is an autosomal recessive metaphyseal chondrodysplasia with short-limbed short stature, hypoplastic hair, and defective immunity and erythrogenesis. We have analysed theExpand
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Decreased Bone Mineral Density in Adults Born with Very Low Birth Weight: A Cohort Study
Petteri Hovi and colleagues evaluate skeletal health in 144 adults born preterm with very low birth weight and show that as adults these individuals have significantly lower bone mineral density thanExpand
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Skeletal phenotype in patients with Shwachman–Diamond syndrome and mutations in SBDS
Pancreatic exocrine and bone marrow dysfunctions are considered to be universal features of Shwachman–Diamond syndrome (SDS) whereas the associated skeletal dysplasia is variable and not consistentlyExpand
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Radiographic vertebral morphology: a diagnostic tool in pediatric osteoporosis.
OBJECTIVE To assess the value of spinal radiographs in determining the significance of reductions in bone mass or density in chronically ill children. STUDY DESIGN A pediatric scoring method forExpand
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Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A→G mutation of the untranslated RMRP
Pleiotropic, recessively inherited cartilage-hair hypoplasia (CHH) is due to mutations in the untranslated RMRP gene on chromosome 9p13-p12 encoding the RNA component of RNase MRP endoribonuclease.Expand
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