{
    "abstract": "Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with poor weight gain and growth deficiency, although later presentations can occur, especially in individuals with autosomal dominant \nThe diagnosis of hereditary dRTA is established in a proband with dRTA and biallelic pathogenic variants in \nHereditary distal renal tubular acidosis caused by loss-of-function variants in ",
    "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": "R Todd",
            "initials": "RT",
            "lastname": "Alexander"
        },
        {
            "collective": null,
            "firstname": "Helena",
            "initials": "H",
            "lastname": "Gil-Pe\u00f1a"
        },
        {
            "collective": null,
            "firstname": "Larry A",
            "initials": "LA",
            "lastname": "Greenbaum"
        },
        {
            "collective": null,
            "firstname": "Fernando",
            "initials": "F",
            "lastname": "Santos"
        }
    ],
    "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": "35346296\n29725771\n15876593\n32712761\n33635379\n36529656\n28188436\n34198293\n39325135\n9312167\n35351460\n33083013\n20028337\n39837581\n39150521\n26453614\n12427141\n11231364\n29242249\n27247958\n22126643\n26571219\n39786900\n35834113\n1944751\n31959358\n28959963\n35260236\n12138152\n9916796\n9600966\n22919024\n18266205\n30773598\n39862309\n26442671\n23729491\n2385736\n28233610\n22145505\n25741868\n12138150\n30028003\n35543873\n28005240\n26961999\n34410491\n32596782\n12414817\n38771324\n33914889\n38447554\n16611712\n17410104\n13658353\n17503324\n31348261\n25164082\n30256676\n31600044",
    "sections": [
        {
            "chapter": null,
            "title": "Summary"
        },
        {
            "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"
}