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7. Hypodipsia-hypernatremia syndrome associated with holoprosencephaly in a child: a case report. Karabay-Bayazit A; Hergüner O; Altunbaşak S; Noyan A; Yükel B; Anarat A Turk J Pediatr; 2002; 44(3):263-6. PubMed ID: 12405444 [TBL] [Abstract][Full Text] [Related]
8. [Familial nephrogenic diabetes insipidus with chronic hypernatremia and cerebral calcifications]. Freycon MT; Lavocat MP; Freycon F Pediatrie; 1988; 43(5):409-13. PubMed ID: 3059312 [TBL] [Abstract][Full Text] [Related]
9. Single central maxillary incisor and holoprosencephaly. Hattori H; Okuno T; Momoi T; Kataoka K; Mikawa H; Shiota K Am J Med Genet; 1987 Oct; 28(2):483-7. PubMed ID: 3425622 [TBL] [Abstract][Full Text] [Related]
10. Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation. de Almeida IG; Kuratani DK; Gomes LM; Fiegenbaum M; Estima Correia EP; Gazzola Zen PR; Machado Rosa RF Eur J Med Genet; 2020 Feb; 63(2):103641. PubMed ID: 30894326 [TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 10874640 [TBL] [Abstract][Full Text] [Related]
13. [Study of a familial case of microcephaly and micrencephaly. Clinical and anatomo-pathologic considerations on a preliminary basis]. Bamatter F; Rabinowicz T J Genet Hum; 1969 Oct; 17(3):247-74. PubMed ID: 5386167 [No Abstract] [Full Text] [Related]
15. Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs. Verloes A; Dodinval P; Beco L; Bonnivert J; Lambotte C Am J Med Genet; 1990 Sep; 37(1):119-23. PubMed ID: 2240028 [TBL] [Abstract][Full Text] [Related]
16. The syndrome of absence of the septum pellucidum with porencephalies and other developmental defects. Aicardi J; Goutières F Neuropediatrics; 1981 Nov; 12(4):319-29. PubMed ID: 7335157 [TBL] [Abstract][Full Text] [Related]
17. The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation. Halal F; Morel J Am J Med Genet; 1990 Sep; 37(1):106-8. PubMed ID: 2240026 [TBL] [Abstract][Full Text] [Related]
18. Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? Mégarbané A; Choueiri R; Bleik J; Mezzina M; Caillaud C J Med Genet; 1999 Aug; 36(8):637-40. PubMed ID: 10465117 [TBL] [Abstract][Full Text] [Related]
19. Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Chang BS; Piao X; Bodell A; Basel-Vanagaite L; Straussberg R; Dobyns WB; Qasrawi B; Winter RM; Innes AM; Voit T; Grant PE; Barkovich AJ; Walsh CA Ann Neurol; 2003 May; 53(5):596-606. PubMed ID: 12730993 [TBL] [Abstract][Full Text] [Related]
20. [Malformation of the brain and genetics]. Arima M Shinkei Kenkyu No Shimpo; 1972 Apr; 16(2):213-7. PubMed ID: 4623928 [No Abstract] [Full Text] [Related] [Next] [New Search]