A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation

Ophthalmic Genetics

Volumn 31, Issue 2, 2010, Pages 98-100

  Fabretto, Antonella ^a   Shardlow, Alison ^a   Faletra, Flavio ^a   Lepore, Loredana ^a   Hladnik, Uros ^b   Gasparini, Paolo ^a  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b BIRD   (Italy)

Author keywords

Frameshift mutation; Lymphedema Distichiasis Syndrome; Micrognathia; Prebuberal onset; Pterigium

Indexed keywords

TRANSCRIPTION FACTOR FOXC2;

ADOLESCENT; ARTICLE; CASE REPORT; FACE DYSMORPHIA; FRAMESHIFT MUTATION; HEART ATRIUM SEPTUM DEFECT; HEART LEFT RIGHT SHUNT; HETEROZYGOSITY; HUMAN; LEG LENGTH INEQUALITY; LYMPHEDEMA DISTICHIASIS; MALE; NOONAN SYNDROME; PATENT DUCTUS ARTERIOSUS; PERIPHERAL EDEMA; PRIORITY JOURNAL; PTOSIS; RESPIRATORY DISTRESS; SCOLIOSIS; WEBBED NECK;

ABNORMALITIES, MULTIPLE; ADOLESCENT; EYE ABNORMALITIES; EYELASHES; FACE; FORKHEAD TRANSCRIPTION FACTORS; FRAMESHIFT MUTATION; HUMANS; LYMPHEDEMA; MALE; SYNDROME;

EID: 77952167573     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816811003620517     Document Type: Article

References (11)

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