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Phenotype–genotype correlation in two patients with 12q proximal deletion

✍ Scribed by Noriko Miyake; Hidefumi Tonoki; Marta Gallego; Naoki Harada; Osamu Shimokawa; Koh-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto


Book ID
106251790
Publisher
Nature Publishing Group
Year
2004
Tongue
English
Weight
207 KB
Volume
49
Category
Article
ISSN
1435-232X

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A family with a 1.17 Mb deletion of 12q1
✍ Margaret P. Adam; Ami Mehta; Linda Knight; David E. Hall; Michael R. Rossi 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 181 KB 👁 2 views

Genotype-phenotype correlation was originally attempted by Miyake et al. [2004] and refined by Failla et al. [2008] based on a 4.5 Mb deleted segment shared by three affected individuals. These three individuals had in common psychomotor and growth retardation, disturbance in extraocular motility, p