Porencephaly in a fetus and HANAC in her father: Variable expression of COL4A1 mutation

American Journal of Medical Genetics, Part A

Volumn 167, Issue 1, 2015, Pages 156-158

  Takenouchi, Toshiki ^a   Ohyagi, Masaki ^b   Torii, Chiharu ^a   Kosaki, Rika ^c   Takahashi, Takao ^a   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOKYO METROPOLITAN BOKUTOH HOSPITAL   (Japan)

^c NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

COL4A1; HANAC; Porencephaly

Indexed keywords

ADULT; ARTICLE; BLOOD SAMPLING; BRAIN ARTERY ANEURYSM; BRAIN HEMORRHAGE; CASE REPORT; CEREBROVASCULAR DISEASE; COL4A1 GENE; FEMALE; FETUS; FETUS ECHOGRAPHY; GENE; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC DISORDER; HEMATURIA; HEMIPARESIS; HEMOLYTIC ANEMIA; HEREDITARY ANGIOPATHY WITH NEPHROPATHY ANEURYSM AND MUSCLE CRAMP; HUMAN; INTRAVASCULAR HEMOLYSIS; JAUNDICE; KIDNEY CYST; MALE; MEDICAL HISTORY; MICROANGIOPATHY; MISSENSE MUTATION; MUSCLE CRAMP; NEPHROTIC SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PORENCEPHALY; PRIORITY JOURNAL; SEIZURE; WHITE MATTER LESION; CONGENITAL MALFORMATION; FATHER; GENETICS; INFANT; MOLECULAR GENETICS; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PEDIGREE; PREGNANCY; RAYNAUD PHENOMENON; YOUNG ADULT;

COL4A1 PROTEIN, HUMAN; COLLAGEN TYPE 4;

ADULT; BASE SEQUENCE; COLLAGEN TYPE IV; FATHERS; FEMALE; FETUS; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUSCLE CRAMP; MUTATION; PEDIGREE; PORENCEPHALY; PREGNANCY; RAYNAUD DISEASE; YOUNG ADULT;

EID: 84919683334     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36823     Document Type: Article

References (8)

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