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X-linked Opitz G/BBB Syndrome: Identification of a Novel Mutation and Prenatal Diagnosis in a Korean Family

Cho HJ, Shin MY, Ahn KM, Lee SI, Kim HJ, Ki CS, Kim JW

X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations...
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Bilateral Congenital Anophthalmos and Agenesis of the Optic Pathways

Aktekin M, Oz O, Saygili MR, Kurtoglu Z

This report presents a rare example of a bilateral congenital anophthalmos and an agenesis of the optic pathways. The MR imaging studies revealed that the eyeballs, optic nerves, optic chiasm,...
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The First Korean Case of Beare-Stevenson Syndrome with a Tyr375Cys Mutation in the Fibroblast Growth Factor Receptor 2 Gene

Eun SH, Ha KS, Je BK, Lee ES, Choi BM, Lee JH, Eun BL, Yoo KH

Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features....
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A Case of Pseudoisodicentric Chromosome 18q Detected at Prenatal Diagnosis

Cho SY, Lim G, Kim SY, Kim MJ, Lee KA, Choi JR, Lee HJ, Suh JT, Park TS, Jung E

Although trisomy 18 (Edwards' syndrome) or the terminal deletion syndromes of 18p and 18q have been occasionally detected, pseudoisodicentric chromosome 18 is a very rare constitutional chromosomal abnormality. We describe...
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A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome

Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW

KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11...
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