Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.

Girisha, Katta M; Bhavani, Gandham S; Shah, Hitesh; Moirangthem, Amita; Shukla, Anju; Kim, Ok-Hwa; Nishimura, Gen; Mortier, Geert R

Girisha, Katta M; Bhavani, Gandham S; Shah, Hitesh; Moirangthem, Amita; Shukla, Anju; Kim, Ok-Hwa; Nishimura, Gen; Mortier, Geert R.

Afiliación

Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Bhavani GS; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Shah H; Department of Orthopedics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Moirangthem A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Kim OH; Department of Pediatric Radiology, Woorisoa Children's Hospital, Seoul, Republic of Korea.
Nishimura G; Center for Intractable Diseases Iruma-gun, Saitama Medical University Hospital, Saitama, Japan.
Mortier GR; Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

Am J Med Genet A ; 182(2): 338-347, 2020 02.

Article en En | MEDLINE | ID: mdl-31755234

Asunto(s)

Colágeno Tipo II/genética; Enanismo/genética; Osteocondrodisplasias/congénito; Adulto; Niño; Preescolar; Enanismo/fisiopatología; Epífisis/fisiopatología; Femenino; Genes Recesivos; Heterocigoto; Humanos; Masculino; Mutación/genética; Osteocondrodisplasias/genética; Osteocondrodisplasias/fisiopatología; Fenotipo; Columna Vertebral/fisiopatología; Adulto Joven

Palabras clave

Type 2 collagenopathies; autosomal recessive; biallelic pathogenic variants; exome sequencing; short stature; spondylo-epi-metaphyseal dysplasia

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Colágeno Tipo II / Enanismo Límite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: India

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