Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 Gene in a mennonite baby with restrictive dermopathy and placenta abruption

American Journal of Medical Genetics, Part A

Volumn 152, Issue 1, 2010, Pages 262-263

  Li, Chumei ^a  

^a MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ASSISTED VENTILATION; AUTOPSY; BIRTH WEIGHT; CANADA; COMMUNITY HOSPITAL; CONSANGUINITY; FACE; FAMILY HISTORY; FEMALE; GENE ISOLATION; GENE MUTATION; GENETIC ASSOCIATION; HEAD CIRCUMFERENCE; HEART RATE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTENSIVE CARE UNIT; INTRAUTERINE GROWTH RETARDATION; JOINT CONTRACTURE; LACERATION; LETTER; MEXICO; MICROGNATHIA; MOUTH; MUTATOR GENE; NEWBORN; NEWBORN DEATH; PERINATAL PERIOD; PHYSICAL EXAMINATION; PRENATAL CARE; PRIORITY JOURNAL; RELATIVE; RESPIRATORY DISTRESS; RESPIRATORY TRACT INTUBATION; RESTRICTIVE DERMOPATHY; SKIN DISEASE; SKIN TIGHTNESS; SOLUTIO PLACENTAE; ZMPST EPSILON 24 GENE; ARTIFICIAL VENTILATION; BRADYCARDIA; ETHNIC DIFFERENCE; HAPLOTYPE; PATHOGENESIS; ZMPSTE24 GENE;

ABRUPTIO PLACENTAE; CHRISTIANITY; FEMALE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MEMBRANE PROTEINS; METALLOENDOPEPTIDASES; MUTATION; PREGNANCY; SKIN DISEASES;

EID: 75149119742     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33163     Document Type: Letter

References (7)

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