Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India.

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Title: Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India.
Authors: Chaudhary, Ajay Kumar1, Gholse, Aishwarya2, Nagarajaram, Hampapathalu Adimurthy2, Dalal, Ashwin Bhikaji3, Gupta, Neerja4, Dutta, Atanu Kumar5, Danda, Sumita5, Gupta, Rekha6, Sankar, Hariharan V.7, Bhavani, Gandham SriLakshmi8, Girisha, Katta M.8, Phadke, Shubha Rao9, Ranganath, Prajnya3,10, Bashyam, Murali Dharan1, bashyam@cdfd.org.in
Source: American Journal of Medical Genetics. Part A; Mar2022, Vol. 188 Issue 3, p788-805, 18p
Database: Applied Science & Technology Source
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An: 155218005
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  Data: Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India.
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  Data: <searchLink fieldCode="AU" term="%22Chaudhary%2C+Ajay+Kumar%22">Chaudhary, Ajay Kumar</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Gholse%2C+Aishwarya%22">Gholse, Aishwarya</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AU" term="%22Nagarajaram%2C+Hampapathalu+Adimurthy%22">Nagarajaram, Hampapathalu Adimurthy</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AU" term="%22Dalal%2C+Ashwin+Bhikaji%22">Dalal, Ashwin Bhikaji</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AU" term="%22Gupta%2C+Neerja%22">Gupta, Neerja</searchLink><relatesTo>4</relatesTo><br /><searchLink fieldCode="AU" term="%22Dutta%2C+Atanu+Kumar%22">Dutta, Atanu Kumar</searchLink><relatesTo>5</relatesTo><br /><searchLink fieldCode="AU" term="%22Danda%2C+Sumita%22">Danda, Sumita</searchLink><relatesTo>5</relatesTo><br /><searchLink fieldCode="AU" term="%22Gupta%2C+Rekha%22">Gupta, Rekha</searchLink><relatesTo>6</relatesTo><br /><searchLink fieldCode="AU" term="%22Sankar%2C+Hariharan+V%2E%22">Sankar, Hariharan V.</searchLink><relatesTo>7</relatesTo><br /><searchLink fieldCode="AU" term="%22Bhavani%2C+Gandham+SriLakshmi%22">Bhavani, Gandham SriLakshmi</searchLink><relatesTo>8</relatesTo><br /><searchLink fieldCode="AU" term="%22Girisha%2C+Katta+M%2E%22">Girisha, Katta M.</searchLink><relatesTo>8</relatesTo><br /><searchLink fieldCode="AU" term="%22Phadke%2C+Shubha+Rao%22">Phadke, Shubha Rao</searchLink><relatesTo>9</relatesTo><br /><searchLink fieldCode="AU" term="%22Ranganath%2C+Prajnya%22">Ranganath, Prajnya</searchLink><relatesTo>3,10</relatesTo><br /><searchLink fieldCode="AU" term="%22Bashyam%2C+Murali+Dharan%22">Bashyam, Murali Dharan</searchLink><relatesTo>1</relatesTo>, <i>bashyam@cdfd.org.in</i>
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  Data: <searchLink fieldCode="JN" term="%22American+Journal+of+Medical+Genetics%2E+Part+A%22">American Journal of Medical Genetics. Part A</searchLink>; Mar2022, Vol. 188 Issue 3, p788-805, 18p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=155218005
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        Value: 10.1002/ajmg.a.62579
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      – Code: eng
        Text: English
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        PageCount: 18
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      – TitleFull: Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India.
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              Text: Mar2022
              Type: published
              Y: 2022
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