Results 81 to 87 of about 1,142,423 (87)

Renal-coloboma syndrome: Prenatal detection and clinical spectrum in a large family

American Journal of Medical Genetics Part A, 2001
M I van Allen
exaly  

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Human Mutation, 2012
Gérard C P Schaafsma, Rajiv Kumar, Stéphane Decramer   +2 more
exaly  

Nasopalpebral lipoma-coloboma: a very rare autosomal dominant dysplasia-malformation syndrome

European Journal of Plastic Surgery, 1991
exaly  

The nasopalpebral lipoma-coloboma syndrome: A new autosomal dominant dysplasia-malformation syndrome with congenital nasopalpebral lipomas, eyelid colobomas, telecanthus, and maxillary hypoplasia

American Journal of Medical Genetics Part A, 1982
exaly  

New familial association between ocular coloboma and loose anagen syndrome

Clinical Genetics, 1995
exaly  

Coloboma, mental retardation, hypogonadism, and obesity: Critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three “new” syndromes

1997
Alain Verloes
exaly  

Nasopalpebral Lipoma–Coloboma Syndrome

JAMA Ophthalmology
exaly