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Severe short stature, profound microcephaly, developmental brain abnormality, agenesis of optic disc and retinal vessels, and bilateral cryptorchidism in two male siblings: a new lethal recessively inherited syndrome

Agarwal, Divyaa; Stephen, Joshia; Phadke, Rajendra V.b; Phadke, Shubha R.a

doi: 10.1097/MCD.0000000000000046
SHORT CASE REPORTS
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Departments of aMedical Genetics

bRadiodiagnosis, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

Correspondence to Shubha R. Phadke, MD, DM, Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow-226014, Uttar Pradesh, India Tel: +91 522 2494325; fax: +91 522 668017; e-mail: shubharaophadke@gmail.com

Received July 6, 2013

Accepted June 10, 2014

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