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Genetic bases of compact forms among cucurbit crops
Published 2024-01-01Subjects: Get full text
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Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants
Published 2025-01-01“…Abstract Background Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II) is an autosomal recessive rare genetic condition marked by characteristic clinical symptoms of prenatal and post-natal growth retardation, reduced height, and microcephaly caused by variations in PCNT gene located on chromosome 21q22. …”
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Treatment of a femoral neck fracture in a patient with dwarfism: a case report
Published 2025-02-01Subjects: “…Pituitary dwarfism…”
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The inheritance pattern for the dwarf phenotype in hybrids from crosses among sunflower lines differing in alleles of the <i>Rht1</i> locus
Published 2024-10-01Subjects: Get full text
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Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran
Published 2025-01-01“…Furthermore, a history of anomalies in previous pregnancies was linked to Klinefelter syndrome, Turner syndrome, dwarfism, and quadriplegia. The number of pregnancies was also correlated with severe LDMH, dwarfism, and Klinefelter syndrome, while job status was related to epilepsy, Alzheimer’s disease, and dwarfism. …”
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Seminoma in a Man with Russell-Silver Syndrome Presenting with Testicular Torsion
Published 2016-01-01“…Russell-Silver syndrome (RSS) is a type of primordial dwarfism. Only one case of testicular cancer in RSS has been reported, the pathology of which was nonseminoma. …”
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Fibroblast growth factor receptor 3 mutation promotes HSPB6-mediated cuproptosis in hypochondroplasia by impairing chondrocyte autophagy
Published 2025-03-01“…Background: Hypochondroplasia (HCH) is a prevalent form of dwarfism linked to mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, causing missense alterations. …”
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Osteoblast-Specific Overexpression of Nucleolar Protein NO66/RIOX1 in Mouse Embryos Leads to Osteoporosis in Adult Mice
Published 2023-01-01“…Genetic ablation of the NO66 (RIOX1) gene in cells of the Prx1-expressing mesenchymal lineage leads to acceleration of osteochondrogenic differentiation and a larger skeleton in adult mice, whereas mesenchyme-specific overexpression of NO66 inhibits osteochondrogenesis resulting in dwarfism and osteopenia. However, the impact of NO66 overexpression in cells of the osteoblast lineage in vivo remains largely undefined. …”
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Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism
Published 2025-01-01“…However, reduced growth velocity can also occur as the first sign of chronic anemia, malnutrition, deprivation (psychosocial dwarfism), chromosomal abnormalities, genetic syndromes and inflammatory bowel diseases. …”
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Skeletal progenitor LRP1 deficiency causes severe and persistent skeletal defects with Wnt pathway dysregulation
Published 2025-01-01“…These abnormalities, which resemble phenotypes associated with Wnt signalling pathways, result in severe and persistent skeletal defects including a severe deficit in hip joint and patella, and markedly deformed and low-density long bones leading to dwarfism and impaired mobility. Mechanistically, we show that LRP1 regulates core non-canonical Wnt/planar cell polarity (PCP) components that may explain the malformation of long bones. …”
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