Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.

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Title: Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.
Authors: Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Hafez MA; Radiology Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Mounir SM; Pediatrics Department, Faculty of Medicine, Minia University, Minia, Egypt., Abdel Ghafar SF; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 226-232. Date of Electronic Publication: 2023 Oct 05.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Issa+MY%22">Issa MY</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Hafez+MA%22">Hafez MA</searchLink>; Radiology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Mounir+SM%22">Mounir SM</searchLink>; Pediatrics Department, Faculty of Medicine, Minia University, Minia, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdel+Ghafar+SF%22">Abdel Ghafar SF</searchLink>; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Zaki+MS%22">Zaki MS</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdel-Hamid+MS%22">Abdel-Hamid MS</searchLink>; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 226-232. <i>Date of Electronic Publication: </i>2023 Oct 05.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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        Value: 10.1002/ajmg.a.63425
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        Text: English
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      – TitleFull: Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.
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              Text: 2024 Feb
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