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	1221.	Comorbidities or different entities? Phenotype variability associated with PSENEN mutations. [electronic resource] by Li, W Xu, H He, Y Lin, L Li, C Producer: 20191213 In: The British journal of dermatology vol. 180 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1222.	Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation. [electronic resource] by Zhang, Zhen Zhang, Jia Chen, Fuying Zheng, Luyao Li, Huaguo Liu, Ming Li, Ming Yao, Zhirong Producer: 20200413 In: The Journal of dermatology vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1223.	Hypohidrotic ectodermal dysplasia: a genealogic, stereomicroscope, and scanning electron microscope study. [electronic resource] by Norval, E J van Wyk, C W Basson, N J Coldrey, J Producer: 19890209 In: Pediatric dermatology vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1224.	Some aspects of occult spinal dysraphism: a study of 90 cases. [electronic resource] by Burrows, F G Producer: 19680820 In: The British journal of radiology vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1225.	GAPO syndrome in three relatives in a Turkish kindred. [electronic resource] by Sayli, B S Gül, D Producer: 19940419 In: American journal of medical genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1226.	[Boy with dermatosparaxis (Ehlers-Danlos type VIIC)]. [electronic resource] by Pasch, M C Sillevis Smitt, J H Veenhuizen, L Kuiters, G R van Essen, A J Producer: 20010329 In: Nederlands tijdschrift voor geneeskunde vol. 144 Availability: No items available. Save to lists Add to cart (remove)
	1227.	Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. [electronic resource] by Moog, U Jones, M C Bird, L M Dobyns, W B Producer: 20060717 In: Journal of medical genetics vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1228.	Cutaneous manifestations of Costello syndrome. [electronic resource] by Nguyen, Victoria Buka, Robert L Roberts, Brandie J Eichenfield, Lawrence F Producer: 20070420 In: International journal of dermatology vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1229.	[Anhidrotic ectodermal dysplasia: "congenital ameibomia"]. [electronic resource] by Allali, J Roche, O Monnet, D Brezin, A Renard, G Dufier, J-L Producer: 20070914 In: Journal francais d'ophtalmologie vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1230.	Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology. [electronic resource] by Matsumoto, Mitsuru Zhou, Yiqing Matsuo, Shinji Nakanishi, Hideki Hirose, Kenji Oura, Hajimu Arase, Seiji Ishida-Yamamoto, Akemi Bando, Yoshimi Izumi, Keisuke Kiyonari, Hiroshi Oshima, Naoko Nakayama, Rika Matsushima, Akemi Hirota, Fumiko Mouri, Yasuhiro Kuroda, Noriyuki Sano, Shigetoshi Chaplin, David D Producer: 20080528 In: Proceedings of the National Academy of Sciences of the United States of America vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1231.	Molecular diagnosis of genodermatoses. [electronic resource] by Wessagowit, Vesarat Producer: 20130624 In: Methods in molecular biology (Clifton, N.J.) vol. 961 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1232.	Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family. [electronic resource] by Sher, Gulab Naeem, Muhammad Producer: 20200508 In: Genetic testing and molecular biomarkers vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1233.	Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects. [electronic resource] by Lindor, N M Michels, V V Hoppe, D A Driscoll, D J Leavitt, J A Dewald, G W Producer: 19921006 In: American journal of medical genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1234.	Ocular, cerebral and cutaneous malformations: confirmation of an association. [electronic resource] by Ferguson, J W Hutchison, H T Rouse, B M Producer: 19840709 In: Clinical genetics vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1235.	[X-linked dominant chondrodysplasia punctata (author's transl)]. [electronic resource] by Happle, R Producer: 19800627 In: Monatsschrift fur Kinderheilkunde vol. 128 Availability: No items available. Save to lists Add to cart (remove)
	1236.	Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome. [electronic resource] by Yano, S Watanabe, Y Producer: 20010816 In: American journal of medical genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1237.	Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients. [electronic resource] by Lestringant, G G Masouyé, I Frossard, P M Adeghate, E Galadari, I H Producer: 19980423 In: Dermatology (Basel, Switzerland) vol. 195 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1238.	Cutaneous hemangiomas, vascular stains and malformations, and associated syndromes. [electronic resource] by Esterly, N B Producer: 19970318 In: Current problems in pediatrics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1239.	Maxillofacial and dental manifestations in a patient with mandibulo-acral dysplasia. [electronic resource] by Tanyeri, Hakki Kurklu, Esma Ak, Gulsum Ozturk, Sukru Koray, Meltem Palanduz, Sukru Producer: 20050311 In: Cranio : the journal of craniomandibular practice vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1240.	Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution. [electronic resource] by Prescott, Trine Devriendt, Koen Hamel, Ben Pasch, Marcel C Peeters, Hilde Vander Poorten, Vincent Tallerås, Ola Producer: 20090416 In: European journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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