Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement [2]

American Journal of Medical Genetics, Part A

Volumn 143, Issue 3, 2007, Pages 289-291

  Chassaing, Nicolas ^a   Gilbert Dussardier, Brigitte ^b   Nicot, Florence ^a   Fermeaux, Véronique ^c   Encha Razavi, Férechté ^d   Fiorenza, Maryse ^b   Toutain, Annick ^e   Calvas, Patrick ^a  

^a CHU PURPAN   (France)

^b POITIERS UNIVERSITY HOSPITAL   (France)

^c LIMOGES UNIVERSITY HOSPITAL   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e CHU BRETONNEAU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANOPHTHALMIA; ANOPHTHALMIA ESOPHAGEAL ATRESIA GENITAL ABNORMALITY SYNDROME; BRAIN MALFORMATION; DISEASE SEVERITY; ESOPHAGUS ATRESIA; FAMILIAL DISEASE; FETUS; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENITAL MALFORMATION; HETEROZYGOSITY; HUMAN; LETTER; MOSAICISM; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RECURRENCE RISK; RIB MALFORMATION; SOX2 GENE; VERTEBRA MALFORMATION;

ANOPHTHALMOS; ESOPHAGEAL ATRESIA; EYE; FEMALE; FETAL DISEASES; GENITAL DISEASES, FEMALE; HMGB PROTEINS; HUMANS; MOSAICISM; MUTATION; PHENOTYPE; PREGNANCY; SYNDROME; TRANSCRIPTION FACTORS;

EID: 33846811551     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31524     Document Type: Letter

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