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Clinical expression of Menkes disease in females with normal karyotype
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Clinical expression of Menkes disease in females with normal karyotype

Møller Lisbeth, Lenartowicz Malgorzata, Zabot Marie-Therese, Josiane Arnaud, Burglen Lydie, Bennett Chris, Riconda Daniel, Fisher Richard, Janssens Sandra, Mohammed Shehla, Ausems Margreet, Tümer Zeynep, Horn Nina, Jensen

Clinical expression of Menkes disease in females with normal karyotype Alternate Text
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Clinical expression of Menkes disease in females with normal karyotype

Møller Lisbeth, Lenartowicz Malgorzata, Zabot Marie-Therese, Josiane Arnaud, Burglen Lydie, Bennett Chris, Riconda Daniel, Fisher Richard, Janssens Sandra, Mohammed Shehla, Ausems Margreet, Tümer Zeynep, Horn Nina, Jensen

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8 pages

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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASKmutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASKmutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Des, Burglen Lydie, Garel Catherine, Touraine Renaud, Goizet Cyril, Barresi Sabina, Coussement Aurélie, Ioos Christine, Lazaro Leila, Joriot Sylvie, Desguerre Isabelle, Lacombe Didier, Bertini Enrico, Siffroi Jean-Pierre, Billette, Rodriguez Diana, Florence Petit, Chantot-Bastaraud Sandra, Milh Mathieu, Zanni Ginevra, Afenjar Alexandra

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASKmutations: confirmation of a recognizable phenotype and first description of a male mosaic patient Alternate Text
Category

Documents

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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASKmutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Des, Burglen Lydie, Garel Catherine, Touraine Renaud, Goizet Cyril, Barresi Sabina, Coussement Aurélie, Ioos Christine, Lazaro Leila, Joriot Sylvie, Desguerre Isabelle, Lacombe Didier, Bertini Enrico, Siffroi Jean-Pierre, Billette, Rodriguez Diana, Florence Petit, Chantot-Bastaraud Sandra, Milh Mathieu, Zanni Ginevra, Afenjar Alexandra

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13 pages

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