M. Sachdev, A. Rastogi, A. Singh, K. Kumar, S. Kapoor, Y. Bansal, S. Goel: Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family. In: Ophthalmic genetics. Band 34, Nummer 1–2, 2013 Mar-Jun, S. 65–68, doi:10.3109/13816810.2012.695423, PMID 22697357.
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H. Pashayan, S. Pruzansky, A. Putterman: A family with blepharo-naso-facial malformations. In: American journal of diseases of children (1960). Band 125, Nummer 3, März 1973, S. 389–393, ISSN0002-922X. PMID 4692594.
M. Sachdev, A. Rastogi, A. Singh, K. Kumar, S. Kapoor, Y. Bansal, S. Goel: Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family. In: Ophthalmic genetics. Band 34, Nummer 1–2, 2013 Mar-Jun, S. 65–68, doi:10.3109/13816810.2012.695423, PMID 22697357.
L. van Maldergem, C. Wetzburger, A. Verloes, C. Fourneau, Y. Gillerot: Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome? In: Clinical genetics. Band 41, Nummer 1, Januar 1992, S. 22–24, ISSN0009-9163. PMID 1633641.
G. Zampino, C. Colosimo, F. Balducci, P. Mariotti, F. Serra, G. Scarano, P. Mastroiacovo: Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome. In: Clinical genetics. Band 45, Nummer 3, März 1994, S. 140–144, ISSN0009-9163. PMID 8026105.
H. Pashayan, S. Pruzansky, A. Putterman: A family with blepharo-naso-facial malformations. In: American journal of diseases of children (1960). Band 125, Nummer 3, März 1973, S. 389–393, ISSN0002-922X. PMID 4692594.
L. van Maldergem, C. Wetzburger, A. Verloes, C. Fourneau, Y. Gillerot: Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome? In: Clinical genetics. Band 41, Nummer 1, Januar 1992, S. 22–24, ISSN0009-9163. PMID 1633641.
G. Zampino, C. Colosimo, F. Balducci, P. Mariotti, F. Serra, G. Scarano, P. Mastroiacovo: Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome. In: Clinical genetics. Band 45, Nummer 3, März 1994, S. 140–144, ISSN0009-9163. PMID 8026105.