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Items: 1 to 20 of 99

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Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma)

Ohnuma K, Imaizumi K, Masuno M, Nakamura M, Kuroki Y.

Am J Med Genet. 1997 Dec 12;73(2):230-2. No abstract available.

PMID:
9409878
5.

A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).

Brooks AS, Breuning MH, Osinga J, vd Smagt JJ, Catsman CE, Buys CH, Meijers C, Hofstra RM.

J Med Genet. 1999 Jun;36(6):485-9.

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Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?

Mégarbané A, Haddad-Zebouni S, Nabbout R, Khoury AH, Traboulsi EI.

Am J Med Genet. 1999 Mar 12;83(2):82-7.

PMID:
10190477
8.

Prenatal growth retardation, microcephaly, and eye coloboma in infant with multiple congenital anomalies: further delineation of presumed new dysmorphic syndrome.

Cuturilo G, Jovanovic I, Vukomanovic G, Djukic M, Stefanovic I, Atanskovic-Markovic M.

Birth Defects Res A Clin Mol Teratol. 2008 Mar;82(3):166-8. doi: 10.1002/bdra.20441.

PMID:
18232021
9.
10.

Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism?

Barros-Nuñez P, Medina C, Mendoza R, Sanchez-Corona J, Garcia-Cruz D.

Clin Genet. 1995 Sep;48(3):160-1.

PMID:
8556825
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Possible autosomal-recessive ocular coloboma.

Pagon RA, Kalina RE, Lechner DJ.

Am J Med Genet. 1981;9(3):189-93.

PMID:
7282780
14.

Familial Hirschsprung's disease: report of autosomal dominant and probable recessive X-linked kindreds.

Stannard VA, Fowler C, Robinson L, Besner G, Glick PL, Allen JE, Jewett TC, Cooney DR.

J Pediatr Surg. 1991 May;26(5):591-4.

PMID:
2061816
15.

Genetics of microphthalmos.

Warburg M.

Int Ophthalmol. 1981 Aug;4(1-2):45-65. Review.

PMID:
6795139
16.

Brief Clinical Report: coloboma hypospadias.

Halal F, Farsky K.

Am J Med Genet. 1981;8(1):53-8.

PMID:
7246606
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19.

Wolf-Hirschhorn syndrome with posterior intraorbital coloboma cyst: an unusual case.

Tutunculer F, Acunas B, Hicdonmez T, Deviren A, Pelitli V.

Brain Dev. 2004 Apr;26(3):203-5.

PMID:
15030910
20.

Ocular coloboma.

Pagon RA.

Surv Ophthalmol. 1981 Jan-Feb;25(4):223-36. Review.

PMID:
6782689

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