{
    "abstract": "Ghosal Type Hematodiaphyseal Dysplasia is an autosomal recessive disorder characterized by refractory anemia and diaphyseal bone dysplasia.\nA 3 y 9 mo-old male child presented with progressive anemia and bowing of thighs. Child was found to have a previously reported homozygous point mutation c.1238G>A, (p.Arg413Glu) in Exon 16 of TBXAS1 gene.\nLow dose steroid therapy resulted in normalization of hemoglobin and prevented further progression of bony changes.\nRefractory anemia in association with bony deformities should prompt pediatricians to investigate for inherited bony dysplasia.",
    "authors": [
        {
            "affiliation": "Department of Pediatrics, AIIMS, New Delhi, India; #Imagine Institut des Maladies Genetiques, France;and $Laboratoire de Genetique Moleculaire, Institut de Recherche Necker Enfants Malades, Paris, France. Correspondence to: Dr Neerja Gupta, Assistant Professor, Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India. neerja17aiims@gmail.com.",
            "firstname": "Amrit",
            "initials": "A",
            "lastname": "Jeevan"
        },
        {
            "affiliation": null,
            "firstname": "Mathilde",
            "initials": "M",
            "lastname": "Doyard"
        },
        {
            "affiliation": null,
            "firstname": "Madhulika",
            "initials": "M",
            "lastname": "Kabra"
        },
        {
            "affiliation": null,
            "firstname": "Valerie Cormier",
            "initials": "VC",
            "lastname": "Daire"
        },
        {
            "affiliation": null,
            "firstname": "Neerja",
            "initials": "N",
            "lastname": "Gupta"
        }
    ],
    "conclusions": null,
    "copyrights": null,
    "doi": "10.1007/s13312-016-0851-y",
    "journal": "Indian pediatrics",
    "keywords": [],
    "methods": null,
    "publication_date": "2016-05-10",
    "pubmed_id": "27156553",
    "results": null,
    "title": "Ghosal Type Hematodiaphyseal Dysplasia.",
    "xml": "<Element 'PubmedArticle' at 0x788504a18180>"
}