Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

Author:

Verloes A,Ayme S,Gambarelli D,Gonzales M,Le Merrer M,Mulliez N,Philip N,Roume J

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference32 articles.

1. Multiple malformation syndrome suggestive of Smith-Lemli-Opitz syndrome with holoprosencephaly in a 46, XY still-born infant;Lieber, E.; Valdarama, E.; Chasalow, F.;Am Hum Genet,1986

2. Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome?;Donnai, D.; Burn, J.; Hughes, H.;Am Med Genet,1987

3. Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly;Young, I.D.; Madders, D.J.;Med Genet,1987

4. Holoprosencephaly and postaxial polydactyly: another observation;Moerman, P.; Fryns, J.P.;Med Genet,1988

5. Holoprosencephalie, polydactylie, cardiopathie: nouveau syndrome ou nouveau cas d'hydrolethalus;Andre, S.A.; Cordier, M.P.; Beaufrere, A.M.; Guillaud, M.; Robert, J.M.;Genet Hum,1988

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1. Hydrolethalus Syndrome;Atlas of Genetic Diagnosis and Counseling;2017

2. Hydrolethalus Syndrome;Atlas of Genetic Diagnosis and Counseling;2016

3. Holoprosencephaly–polydactyly/pseudotrisomy 13;Clinical Dysmorphology;2012-10

4. The Many Faces of Oral-Facial-Digital Syndrome;Balkan Journal of Medical Genetics;2012-01-01

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