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Clinical and Imaging Profile of Patients with Joubert Syndrome

Surisetti BK, Holla VV, Prasad S, Neeraja K, Kamble N, Yadav R, Pal PK

Objective Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features...
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Myhre syndrome: the first case in Korea

Lim D, Kim JH, Lee J

Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. Early diagnosis of MS is difficult...
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Identification of a likely pathogenic variant of YY1 in a patient with developmental delay

Bae S, Yang A, Ahn JH, Kim J, Park HK

Gabriel–de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental...
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A case of mosaic ring chromosome 13 syndrome

Kim SY, Oh SM, Kim MJ, Song ES, Kim YO, Choi YY, Woo YJ, Hwang TJ

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases...
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A Case of Duplication 9q Syndrome

Hwang MJ, Choi YY, Ma JS, Hwang TJ

  • KMID: 1566099
  • J Korean Soc Neonatol.
  • 1998 Nov;5(2):193-197.
Since the first description of the trisomy 9p in 1970, over one hundred cases have been described with the advanced chromosomal banding technique. Clinical findings include growth and mental retardation...
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Surgical Treatment of Craniosynostosis

Choi JU, Kim YS, Chung SS, Lee KC

  • KMID: 2068126
  • J Korean Neurosurg Soc.
  • 1983 Dec;12(4):555-562.
Authors made a clinical analysis on 22 patients of craniosynostosis who had been treated surgically at Severance Hospital from Jan. 1975 to Jun. 1983 and the results were summarized as...
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