Case Report: Proportionate short stature in a three-generation family harboring <i>FGFR3</i> N540S: phenotypic expansion beyond hypochondroplasia and implications for genetic screening in idiopathic short stature. [PDF]
Front Endocrinol (Lausanne)Zhang B, Wang X, Luo J, Gong C.
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Enhancing Prenatal Genetic Evaluation Through the Combination of Single-Gene Non-Invasive Prenatal Screening and Prenatal Imaging. [PDF]
Prenat DiagnAraji S, Cohen JL.
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Case Report: The widening genetic and phenotypic spectrum of ultra-rare PDE4D-related acroscyphodysplasia. [PDF]
Front Med (Lausanne)Morgul A +5 more
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The Fetus Points to the Diagnosis of Rare Skeletal Dysplasia: Stuve-wiedemann Syndrome: Retrospective Case Series and Prenatal Review. [PDF]
J Med UltrasoundBegam MA, Hasan M, Chedid F, Mirghani H.
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Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an <i>ANKRD11</i> Gene Variant. [PDF]
Mol SyndromolÇetinkaya D +3 more
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Osteogenesis Imperfecta: A Case Series and Literature Review. [PDF]
Cureus, 2023 Neri Morales C +9 more
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Histology and Histochemistry of the Long Bones in Micromelia
, 1963 A. T. Spencer
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Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV). [PDF]
BMJ Case Rep, 2022 Das S, Sharma C, Gothwal M, Tada N.
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Neonatal osteogenesis imperfecta revealed by antenatal fractures: A case report. [PDF]
Radiol Case RepEl Messari C +4 more
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A Case of Short-Rib Thoracic Dysplasia: Diagnostic Clues in Early Pregnancy and Genetic Analysis. [PDF]
J Clin UltrasoundLi C +6 more
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