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Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family.

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Title: Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family.
Authors: Hanif, M1 (AUTHOR) hanifawkum85@gmail.com, Ahmad, B1 (AUTHOR), Farman, S1 (AUTHOR) sairafarman@awkum.edu.pk, Hassan, S2 (AUTHOR) Salmanhassan.ibms@kmu.edu.pk, Hayat, A1 (AUTHOR) aamir.hayatqau15@gmail.com, Bibi, N3 (AUTHOR) drnosheenbibi@sbbwu.edu.pk, Kalsoom, U4 (AUTHOR) kalsoom_ibrahim@hotmail.com, Khan, B1 (AUTHOR) bushrakhan@awkum.edu.pk
Source: Balkan Journal of Medical Genetics. Dec2025, Vol. 28 Issue 2, p29-40. 12p.
Database: Academic Search Ultimate
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DbLabel: Academic Search Ultimate
An: 193784185
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  Data: Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family.
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  Data: <searchLink fieldCode="AR" term="%22Hanif%2C+M%22">Hanif, M</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> hanifawkum85@gmail.com</i><br /><searchLink fieldCode="AR" term="%22Ahmad%2C+B%22">Ahmad, B</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Farman%2C+S%22">Farman, S</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> sairafarman@awkum.edu.pk</i><br /><searchLink fieldCode="AR" term="%22Hassan%2C+S%22">Hassan, S</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> Salmanhassan.ibms@kmu.edu.pk</i><br /><searchLink fieldCode="AR" term="%22Hayat%2C+A%22">Hayat, A</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> aamir.hayatqau15@gmail.com</i><br /><searchLink fieldCode="AR" term="%22Bibi%2C+N%22">Bibi, N</searchLink><relatesTo>3</relatesTo> (AUTHOR)<i> drnosheenbibi@sbbwu.edu.pk</i><br /><searchLink fieldCode="AR" term="%22Kalsoom%2C+U%22">Kalsoom, U</searchLink><relatesTo>4</relatesTo> (AUTHOR)<i> kalsoom_ibrahim@hotmail.com</i><br /><searchLink fieldCode="AR" term="%22Khan%2C+B%22">Khan, B</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> bushrakhan@awkum.edu.pk</i>
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  Data: <searchLink fieldCode="JN" term="%22Balkan+Journal+of+Medical+Genetics%22">Balkan Journal of Medical Genetics</searchLink>. Dec2025, Vol. 28 Issue 2, p29-40. 12p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=193784185
RecordInfo BibRecord:
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    Identifiers:
      – Type: doi
        Value: 10.2478/bjmg-2025-00024
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      – Code: eng
        Text: English
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        PageCount: 12
        StartPage: 29
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      – TitleFull: Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family.
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            NameFull: Hanif, M
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            NameFull: Ahmad, B
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            NameFull: Farman, S
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            NameFull: Hassan, S
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            NameFull: Hayat, A
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            NameFull: Bibi, N
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            – D: 01
              M: 12
              Text: Dec2025
              Type: published
              Y: 2025
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              Value: 28
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Balkan Journal of Medical Genetics
              Type: main
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