A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

Prenatal Diagnosis

Volumn 37, Issue 11, 2017, Pages 1146-1154

  Wilbe, Maria ^a   Gudmundsson, Sanna ^a   Johansson, Josefin ^a   Ameur, Adam ^a   Stattin, Eva Lena ^a   Annerén, Göran ^a   Malmgren, Helena ^b   Frykholm, Carina ^a   Bondeson, Marie Louise ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; NUCLEAR PROTEIN; PHOSPHOPROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; PTPN11 PROTEIN, HUMAN; TCOF1 PROTEIN, HUMAN;

AORTIC VALVE STENOSIS; ARTICLE; ATRESIA; ATRIOVENTRICULAR SEPTAL DEFECT; CASE REPORT; CLEFT PALATE; CLINICAL ARTICLE; CLUBFOOT; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; DROPLET DIGITAL POLYMERASE CHAIN REACTION; EAR MALFORMATION; EDEMA; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GERM CELL; GONAD; HUMAN; HYGROMA; IN VITRO FERTILIZATION; MALE; MANDIBULOFACIAL DYSOSTOSIS; MICROGNATHIA; MIDFACE HYPOPLASIA; MOSAICISM; NOONAN SYNDROME; PATENT FORAMEN OVALE; PATHOGENESIS; PREIMPLANTATION GENETIC DIAGNOSIS; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; RECURRENCE RISK; SANGER SEQUENCING; SKELETON MALFORMATION; TURNER SYNDROME; DNA MUTATIONAL ANALYSIS; GENETICS; PREGNANCY; PROCEDURES; RISK ASSESSMENT;

DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MANDIBULOFACIAL DYSOSTOSIS; MOSAICISM; NOONAN SYNDROME; NUCLEAR PROTEINS; PHOSPHOPROTEINS; PREGNANCY; PREIMPLANTATION DIAGNOSIS; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; RISK ASSESSMENT;

EID: 85034624837     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.5156     Document Type: Article

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