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  • Achondroplasia

    […] at c.1138G   A (p.Gly380Arg) and a de novo 574 kb duplication at chromosome 7p12.1 that involved the entire growth-factor receptor bound protein 10 (GRB10) gene.[] […] short stature is a result of: growth hormone deficiency; Turner syndrome; Prader-Willi syndrome; chronic kidney disease; or a particular genetic fault known as short stature homeobox-containing[] Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy.[]

  • Duane Retraction Syndrome

    The linked region contains the homeobox D gene cluster.[] The electro-retinogram waveforms were extinguished both for rods and cones.[] […] genes such as a homeobox gene.[]

  • Aniridia

    We reported a novel duplication in the PAX6 gene capable of causing the classic aniridia phenotype.[] Mouse small eye results from mutations in a paired-like homeobox-containing gene . Nature 1991; 354 : 522–525. 21.[] We have also added a number of genes to Cone-Rod Dystrophy, Vitelliform Macular Dystrophy, and comprehensive eye diseases panels.[]

  • Leri-Weill Dyschondrosteosis

    FISH analysis with SHOX and SRY gene probes was carried out.[] The loss of SHOX on Xp22.32, also called PHOG (pseudoautosomal homeobox-containing osteogenic gene), through structural aberrations of the X chromosome was also implicated[] osteodystrophy 2016 2017 2018 2019 Billable/Specific Code Applicable To Azotemic osteodystrophy Phosphate-losing tubular disorders Renal rickets Renal short stature Type[]

  • X-Linked Ichthyosis

    The second group included 18 patients with breakpoints at several regions on either side of the STS gene not including the VCX3A gene.[] homeobox; steroid sulfatase enzyme; variable charge, X-linked; variable charge, X-linked 2; variable charge, X-linked 3A; variable charge, X-linked 3B[] We observed no features typical of renal osteodystrophy or rickets, with the exception of short stature, in the three afffected male family members.[]

  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    Each proband was homozygous for a different inactivating mutation in NKX3-2, a homeobox-containing gene located on chromosome 4p15.33.[] Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD; OMIM 613330) is a dysostosis/dysplasia caused by recessive mutations in the homeobox-containing gene, NKX3-2 (formerly[] Spondylometaphyseal Dysplasia with cone-rod dystrophy ; 39. Axial Spondylometaphyseal Dysplasia ; Section VII Spondylo-Epi-Metaphyseal Dysplasias ; 40.[]

  • Septo-Optic Dysplasia

    SUBJECTS AND METHODS: In all patients, the HESX1 gene was analyzed by direct sequence analysis and in cases of CPHD the PROP1 gene was also sequenced.[] Mutations in the homeobox containing transcription factor HESX1 have been implicated.[] cone dystrophy, midbrain lesions, and brain irradiation ( 3 ).[]

  • Spondylometaphyseal Dysplasia

    ) Metatropic dysplasia (p.R594H and p.P799L mutations on TRPV4 gene) Skeletal dysplasia (NGS panel for 31 genes) - Plus Spinal muscular atrophy (NGS panel for 21 genes) Limb[] SHOX is the abbreviation for short stature homeobox-containing gene. This gene is located in the pseudoautosomal region of the p-arm of the X and Y chromosomes.[] PURPOSE: To report on the clinical ophthalmologic and radiographic findings in spondylometaphyseal dysplasia with cone-rod dystrophy.[]

  • Langer Mesomelic Dysplasia

    […] pseudoautosomal) dominant and Langer mesomelic dysplasia ( LMD ; MIM 249700) is an autosomal (pseudoautosomal) recessive disorder caused by mutations in the pseudoautosomal genes[] The SHOX (short-stature homeobox-containing) gene encodes isoforms of a homeodomain transcription factor important in human limb development.[] Spondylometaphyseal Dysplasia with cone-rod dystrophy ; 39. Axial Spondylometaphyseal Dysplasia ; Section VII Spondylo-Epi-Metaphyseal Dysplasias ; 40.[]

  • X-Linked Cone Rod Dystrophy

    We aimed to identify the causative gene behind the CORDX3 phenotype. METHODS: All 48 exons of the CACNA1F gene were screened for mutations by DNA sequencing.[] containing gene ( CRX ) [2] ; guanylate cyclase activator 1A ( GUCA1A ) [3] ; guanylate cyclase 2D ( GUCY2D ) [4] ; PITPNM family member 3 ( PITPNM3 ) [5] ; prominin 1 ([] Delivering gene therapy to the RPE The delivery of a functional gene to the retinal pigment epithelium (RPE) has been achieved in patients with certain types of Leber congenital[]