A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father

American Journal of Medical Genetics, Part A

Volumn 143, Issue 23, 2007, Pages 2815-2820

  Forzano, F ^a   Lituania, M ^a   Viassolo, V ^a   Superti Furga, A ^b   Wildhardt, G ^d   Zabel, B ^b,c   Faravelli, F ^a  

^a GALLIERA HOSPITAL   (Italy)

^b UNIVERSITY OF FREIBURG   (Germany)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

^d Bioscientia Center for Human Genetics   (Germany)

Author keywords

Achondrogenesis type II; COL2A1 mutation; Lethal skeletal dysplasia; Mosaicism; Recurrence

Indexed keywords

COLLAGEN 2A1; COLLAGEN TYPE 2; GENOMIC DNA; UNCLASSIFIED DRUG;

ACHONDROGENESIS TYPE II; AMNION CELL; ANAMNESIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CLINICAL FEATURE; CYSTIC LYMPHANGIOMA; DNA EXTRACTION; DNA SEQUENCE; FAMILIAL DISEASE; FETUS HYDROPS; GENETIC DISORDER; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; LABORATORY TEST; MISSENSE MUTATION; MOSAICISM; PHYSICAL EXAMINATION; PREGNANCY; PREGNANCY TERMINATION; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADULT; BASE SEQUENCE; COLLAGEN TYPE II; DNA PRIMERS; FEMALE; GENES, DOMINANT; HUMANS; INFANT, NEWBORN; MALE; MOSAICISM; MUTATION; OSTEOCHONDRODYSPLASIAS; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 36849080405     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32047     Document Type: Article

References (7)

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