Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1MEE, Lisa; HONKALA, Heli; PELTONEN, Leena et al.Human molecular genetics (Print). 2005, Vol 14, Num 11, pp 1475-1488, issn 0964-6906, 14 p.Article

First-trimester diagnosis of hydrolethalus syndrome in a Chinese familyBEN CHONG PUN CHAN; WAI HUNG SHEK, Tony; CHIN PENG LEE et al.Prenatal diagnosis. 2004, Vol 24, Num 8, pp 587-590, issn 0197-3851, 4 p.Article

Hydrolethalus Syndrome : Neuropathology of 21 Cases Confirmed by HYLS1 Gene Mutation AnalysisPAETAU, Anders; HONKALA, Heli; SALONEN, Riitta et al.Journal of neuropathology and experimental neurology. 2008, Vol 67, Num 8, pp 750-762, issn 0022-3069, 13 p.Article

Prenatal detection of hydrolethalus syndromeHARTIKAINEN-SORRI, A.-L; KIRKINEN, P; HERVA, R et al.Prenatal diagnosis. 1983, Vol 3, Num 3, pp 219-224, issn 0197-3851Article

Hydrolethalus syndrome, in contrast to Smith-Lemli-Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis: A case reportRAKHEJA, Dinesh; ROGERS, Beverly B; GALINDO, Rene L et al.American journal of medical genetics. 2004, Vol 129A, Num 2, pp 212-213, issn 0148-7299, 2 p.Article

Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosisAUGHTON, D. J; CASSIDY, S. B.American journal of medical genetics. 1987, Vol 27, Num 4, pp 935-942, issn 0148-7299Article

Prenatal ultrasound findings in hydrolethalus : continuing difficulties in diagnosisNORGARD, M; YANKOWITZ, J; RHEAD, W et al.Prenatal diagnosis. 1996, Vol 16, Num 2, pp 173-179, issn 0197-3851Article

Twin fetuses with abnormalities that overlap with three midline malformation complexesHINGORANI, S. R; PAGON, R. A; SHEPARD, T. H et al.American journal of medical genetics. 1991, Vol 41, Num 2, pp 230-235, issn 0148-7299Article

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesPUTOUX, Audrey; THOMAS, Sophie; BENNETT, Christopher L et al.Nature genetics. 2011, Vol 43, Num 6, pp 601-606, issn 1061-4036, 6 p.Article

Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineationANYANE-YEBOA, K; COLLINS, M; KUPSKY, W et al.American journal of medical genetics. 1987, Vol 26, Num 4, pp 899-907, issn 0148-7299Article

Hydrolethalus syndromeSALONEN, R; HERVA, R.Journal of medical genetics. 1990, Vol 27, Num 12, pp 756-759, issn 0022-2593, 4 p.Article

Bilateral pulmonary agenesis: association with the hydrolethalus syndrome and review of the literature from a developmental field perspectiveTORIELLO, H. V; BAUSERMAN, S. C.American journal of medical genetics. 1985, Vol 21, Num 1, pp 93-103, issn 0148-7299Article

Two consecutive hydrolethalus syndome-affected pregnancies in a nonconsanguinous black couple : discussion of problems in prenatal differential diagnosis of midline malformation syndromesPRYDE, P. G; QURESHI, F; HALLAK, M et al.American journal of medical genetics. 1993, Vol 46, Num 5, pp 537-541, issn 0148-7299Article

Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly : Hydrolethalus or acrocallosal syndrome?CHRISTENSEN, B; BLAAS, H.-G; ISAKSEN, C. V et al.American journal of medical genetics. 2000, Vol 91, Num 3, pp 231-234, issn 0148-7299Article

Aspect anténatal des ciliopathies: hétérogénéité clinique et génétique = Antenatal ciliopathies: clinical and genetic heterogeneityPUTOUX, Audrey; VEKEMANS, Michel; ATTIE-BITACH, Tania et al.MT médecine de la reproduction. 2010, Vol 12, Num 2, pp 90-94, issn 1774-640X, 5 p.Conference Paper

Hydrolethalus syndrome in a non-Finnish family : Confirmation of the entity and early prenatal diagnosisDE RAVEL, T. J. L; VAN DER GRIENDT, M. C; EVAN, P et al.Prenatal diagnosis. 1999, Vol 19, Num 3, pp 279-281, issn 0197-3851Article

Dandy-Walker malformation and polydactyly : a possible expression of hydrolethalus syndromeMORAVA, E; ADAMOVICH, K; CZEIZEL, A. E et al.Clinical genetics. 1996, Vol 49, Num 4, pp 211-215, issn 0009-9163Article

Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25VISAPÄÄ, I; SALONEN, R; VARILO, T et al.American journal of human genetics. 1999, Vol 65, Num 4, pp 1086-1095, issn 0002-9297Article