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Rhizomelic short stature with dysmorphism in two siblings due to PKDCC gene pathogenic variants.

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Title: Rhizomelic short stature with dysmorphism in two siblings due to PKDCC gene pathogenic variants.
Authors: Guddeti, Arun1 (AUTHOR), Sridharan, Anushri1 (AUTHOR), Kumar, Sanjay1 (AUTHOR), Ramya, V Sai1 (AUTHOR), Aleem, Sayyad1 (AUTHOR), Kumar, K V S Hari1 (AUTHOR)
Source: JCEM Case Reports. Feb2026, Vol. 4 Issue 2, p1-4. 4p.
Database: Academic Search Ultimate
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  Data: Rhizomelic short stature with dysmorphism in two siblings due to PKDCC gene pathogenic variants.
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  Data: <searchLink fieldCode="AR" term="%22Guddeti%2C+Arun%22">Guddeti, Arun</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sridharan%2C+Anushri%22">Sridharan, Anushri</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kumar%2C+Sanjay%22">Kumar, Sanjay</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ramya%2C+V+Sai%22">Ramya, V Sai</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Aleem%2C+Sayyad%22">Aleem, Sayyad</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kumar%2C+K+V+S+Hari%22">Kumar, K V S Hari</searchLink><relatesTo>1</relatesTo> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22JCEM+Case+Reports%22">JCEM Case Reports</searchLink>. Feb2026, Vol. 4 Issue 2, p1-4. 4p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=191893652
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1210/jcemcr/luag010
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      – Code: eng
        Text: English
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      – TitleFull: Rhizomelic short stature with dysmorphism in two siblings due to PKDCC gene pathogenic variants.
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            NameFull: Guddeti, Arun
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            NameFull: Sridharan, Anushri
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            NameFull: Kumar, Sanjay
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            NameFull: Ramya, V Sai
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            NameFull: Aleem, Sayyad
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            – D: 01
              M: 02
              Text: Feb2026
              Type: published
              Y: 2026
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