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	1121.	A NEW SYNDROME COMBINING PTERYGIUM COLLI WITH DEVELOPMENTAL ANOMALIES OF THE EYELIDS AND LYMPHATICS OF THE LOWER EXTREMITIES. [electronic resource] by FALLS, H F KERTESZ, E D Producer: 19961201 In: Transactions of the American Ophthalmological Society vol. 62 Availability: No items available. Save to lists Add to cart (remove)
	1122.	A whistling face syndrome case with bilateral skin dimples. [electronic resource] by Buyukavci, M Tan, H Eren, S Balci, S Producer: 20050802 In: Genetic counseling (Geneva, Switzerland) vol. 16 Availability: No items available. Save to lists Add to cart (remove)
	1123.	Gene symbol: BRAF. Disease: Cardio-facio-cutaneous syndrome. [electronic resource] by Cave, Hélène Producer: 20080425 In: Human genetics vol. 123 Availability: No items available. Save to lists Add to cart (remove)
	1124.	Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation. [electronic resource] by Khan, Arif O Aldahmesh, Mohammed A Alkuraya, Fowzan S Producer: 20130326 In: Ophthalmic genetics vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1125.	[A woman with pain, stiffness and skin abnormalities]. [electronic resource] by Louter, Leonora van Kats, Maartje A C E Huisman, A Margriet Producer: 20150427 In: Nederlands tijdschrift voor geneeskunde vol. 158 Availability: No items available. Save to lists Add to cart (remove)
	1126.	Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome. [electronic resource] by van Rahden, Vanessa A Rau, Isabella Fuchs, Sigrid Kosyna, Friederike K de Almeida, Hiram Larangeira Fryssira, Helen Isidor, Bertrand Jauch, Anna Joubert, Madeleine Lachmeijer, Augusta M A Zweier, Christiane Moog, Ute Kutsche, Kerstin Producer: 20140926 In: Orphanet journal of rare diseases vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1127.	A mosaic form of microphthalmia with linear skin defects. [electronic resource] by Prepeluh, Nina Korpar, Bojan Zagorac, Andreja Zagradišnik, Boris Golub, Andreja Kokalj Vokač, Nadja Producer: 20190813 In: BMC pediatrics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1128.	Pericardial agenesis and focal aplasia cutis in tetrasomy 12p (Pallister-Killian syndrome). [electronic resource] by Zakowski, M F Wright, Y Ricci, A Producer: 19920323 In: American journal of medical genetics vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1129.	Expanded phenotype and ethnicity in Setleis syndrome. [electronic resource] by Clark, R D Golabi, M Lacassie, Y Hall, B Seto, S Producer: 19900112 In: American journal of medical genetics vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1130.	Reevaluation of a kindred with congenital absence of dermal ridges, syndactyly, and facial milia. [electronic resource] by Cirillo-Hyland, V A Zackai, E H Honig, P J Grace, K R Schnur, R E Producer: 19950223 In: Journal of the American Academy of Dermatology vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1131.	Skin abnormalities in mice transgenic for plasminogen activator inhibitor 1: implications for the regulation of desquamation and follicular neogenesis by plasminogen activator enzymes. [electronic resource] by Lyons-Giordano, B Lazarus, G S Producer: 19950925 In: Developmental biology vol. 170 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1132.	Equine epitheliogenesis imperfecta in two american saddlebred foals is a lamina lucida defect. [electronic resource] by Lieto, L D Swerczek, T W Cothran, E G Producer: 20030213 In: Veterinary pathology vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1133.	Complete elimination of incessant polymorphic ventricular tachycardia in an infant with MIDAS syndrome: use of endocardial mapping and radiofrequency catheter ablation. [electronic resource] by Paul, Thomas Laohakunakorn, Preecha Long, Blake Saul, J Philip Producer: 20030108 In: Journal of cardiovascular electrophysiology vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1134.	MIDAS (microphthalmia, dermal aplasia, sclerocornea) syndrome with central nervous system abnormalities. [electronic resource] by Carman, Kursat Bora Yakut, Ayten Sabuncu, Ilham Yarar, Coskun Producer: 20091112 In: Clinical dysmorphology vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1135.	Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene. [electronic resource] by Takenouchi, Toshiki Miwa, Tomoru Sakamoto, Yoshiaki Sakaguchi, Yuri Uehara, Tomoko Takahashi, Takao Kosaki, Kenjiro Producer: 20171201 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1136.	Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene. [electronic resource] by Abdalla, Ebtesam Ravenscroft, Gianina Zayed, Louay Beecroft, Sarah J Laing, Nigel G Producer: 20180316 In: Neuromuscular disorders : NMD vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1137.	KLICK syndrome: recognizable phenotype and hot-spot POMP mutation. [electronic resource] by Morice-Picard, F Jonca, N Pichery, M Mermin, D Leauté-Labrèze, C Taïeb, A Mazereeuw-Hautier, J Boralevi, F Producer: 20190715 In: Journal of the European Academy of Dermatology and Venereology : JEADV vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1138.	How to Evaluate Acne in Reproductive-Age Women: An Epidemiological Study in Chinese Communities. [electronic resource] by Wang, Yu-Yang Li, Shang-Wei Luo, Shan Qin, Lang Zeng, Xun Li, Lei Li, Xiao-Hong Producer: 20190621 In: BioMed research international vol. 2019 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1139.	Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome. [electronic resource] by Porath, Binu Farooki, Sana Gener, Melissa Amudhavalli, Shivarajan Manickavasagam Grote, Lauren Cooley, Linda D Ginn, Kevin Farooqi, Midhat S Producer: 20210603 In: Clinical genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1140.	Cutaneous defects of focal dermal hypoplasia: an ectomesodermal dysplasia syndrome. [electronic resource] by Howell, J B Freeman, R G Producer: 19900123 In: Journal of cutaneous pathology vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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