Prenatal diagnosis of Costello Syndrome using 3D Ultrasonography Amniocentesis confirmation of the rare HRAS mutation G12D

American Journal of Medical Genetics, Part A

Volumn 149, Issue 4, 2009, Pages 785-787

  Kuniba, Hideo ^a   Pooh, Ritsuko K ^b   Sasaki, Kensaku ^c   Shimokawa, Osamu ^c   Harada, Naoki ^c   Kondoh, Tatsuro ^a,d   Egashira, Masanori ^a   Moriuchi, Hiroyuki ^a   Yoshiura, Koh Ichiro ^a   Niikawa, Norio ^a,e  

^a NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^b CRIFM Clinical Research Institute of Fetal Medicine PMC   (Japan)

^c Kyushu Medical Science Nagasaki Laboratory   (Japan)

^d Institute for Severe Intellectual/Motor Disabled Persons   (Japan)

^e HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; AMNIOCENTESIS; AMNION FLUID; BIRTH WEIGHT; CASE REPORT; CLINICAL FEATURE; COSTELLO SYNDROME; CYTOGENETICS; DNA EXTRACTION; ECHOGRAPHY; FEMALE; FETUS ECHOGRAPHY; GENE; GENE MUTATION; GESTATIONAL AGE; HRAS GENE; HUMAN; LETTER; MALE; MOLECULAR GENETICS; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; THREE DIMENSIONAL ECHOGRAPHY;

ABNORMALITIES, MULTIPLE; AMNIOCENTESIS; BASE SEQUENCE; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RAS; HUMANS; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PHENOTYPE; POLYHYDRAMNIOS; PREGNANCY; SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 63749093765     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32335     Document Type: Letter

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