{
    "abstract": "The diagnosis of ",
    "authors": [
        {
            "collective": null,
            "firstname": "Margaret P",
            "initials": "MP",
            "lastname": "Adam"
        },
        {
            "collective": null,
            "firstname": "Jerry",
            "initials": "J",
            "lastname": "Feldman"
        },
        {
            "collective": null,
            "firstname": "Ghayda M",
            "initials": "GM",
            "lastname": "Mirzaa"
        },
        {
            "collective": null,
            "firstname": "Roberta A",
            "initials": "RA",
            "lastname": "Pagon"
        },
        {
            "collective": null,
            "firstname": "Stephanie E",
            "initials": "SE",
            "lastname": "Wallace"
        },
        {
            "collective": null,
            "firstname": "Anne",
            "initials": "A",
            "lastname": "Amemiya"
        },
        {
            "collective": null,
            "firstname": "Hela",
            "initials": "H",
            "lastname": "Azaiez"
        },
        {
            "collective": null,
            "firstname": "Ryan K",
            "initials": "RK",
            "lastname": "Thorpe"
        },
        {
            "collective": null,
            "firstname": "Amanda M",
            "initials": "AM",
            "lastname": "Odell"
        },
        {
            "collective": null,
            "firstname": "Richard JH",
            "initials": "RJH",
            "lastname": "Smith"
        }
    ],
    "copyrights": "Copyright \u00a9 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.",
    "doi": null,
    "isbn": null,
    "language": "eng",
    "publication_date": "1993",
    "publication_type": "Review",
    "publisher": "University of Washington, Seattle",
    "publisher_location": "Seattle (WA)",
    "pubmed_id": "30245029\n26632695\n20224275\n19250381\n27178980\n37679651\n36837553\n26545793\n31095577\n34536124\n28959963\n30482216\n29688962\n23440695\n40004445\n20667140\n35552163\n38280389\n20230791\n22575033\n29111973\n12114484\n38189623\n30303587\n25741868\n18381613\n19461658\n17055430\n33908410\n26969326\n9657592\n32596782\n27729456\n34424407\n16371502\n33256196\n23897863\n20504331\n38839897\n31581539\n17703185\n10192385\n24746455\n20211493\n26818607\n26778470\n32508568\n20301429",
    "sections": [
        {
            "chapter": null,
            "title": "Summary"
        },
        {
            "chapter": null,
            "title": ""
        },
        {
            "chapter": null,
            "title": "Diagnosis"
        },
        {
            "chapter": null,
            "title": "Clinical Characteristics"
        },
        {
            "chapter": null,
            "title": "Genetically Related (Allelic) Disorders"
        },
        {
            "chapter": null,
            "title": "Differential Diagnosis"
        },
        {
            "chapter": null,
            "title": "Management"
        },
        {
            "chapter": null,
            "title": "Genetic Counseling"
        },
        {
            "chapter": null,
            "title": "Resources"
        },
        {
            "chapter": null,
            "title": "Molecular Genetics"
        },
        {
            "chapter": null,
            "title": "Chapter Notes"
        },
        {
            "chapter": null,
            "title": "References"
        }
    ],
    "title": "GeneReviews"
}