PMC Articles for MedGen (Select 374340) - PMC

Select item 88316701.

Acral Peeling in Nagashima Type Palmo-plantar Keratosis Patients Reveals the Role of Serine Protease Inhibitor B 7 in Keratinocyte Adhesion

Eran Cohen-Barak, Wassim Azzam, Jennifer L. Koetsier, Nada Danial-Farran, Moran Barcan, Maysa Hriesh, Morad Khayat, Natalia Edison, Judith Krausz, Chen Gafni-Amsalem, Akiharu Kubo, Lisa M. Godsel, Michael Ziv, Stavit Allon-Shalev

Exp Dermatol. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Exp Dermatol. 2022 Feb; 31(2): 214–222. Published online 2021 Aug 17. doi: 10.1111/exd.14444

PMCID:: PMC8831670

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Select item 81705872.

Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis

Harvy M. Velasco, Ehsan Ullah, Angela M. Martin, Robert B. Hufnagel, Carlos E. Prada

Am J Med Genet A. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: Am J Med Genet A. 2020 Oct; 182(10): 2214–2221. Published online 2020 Aug 11. doi: 10.1002/ajmg.a.61782

PMCID:: PMC8170587

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Select item 65299943.

Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene

Nacim Louhichi, Emna Bahloul, Slaheddine Marrakchi, Houda Ben Othman, Chahnez Triki, Kawthar Aloulou, Lobna Trabelsi, Nadia Mahfouth, Zeineb Ayadi-Mnif, Leila Keskes, Faiza Fakhfakh, Hamida Turki

Orphanet J Rare Dis. 2019; 14: 112. Published online 2019 May 22. doi: 10.1186/s13023-019-1095-4

PMCID:: PMC6529994

Article PDF–759K

Select item 53120034.

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

Celia Zazo Seco, Anna Castells-Nobau, Seol-hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S. Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M. Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P. van de Warrenburg, Chiea Chuen Khor, Martin C. Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi

Dis Model Mech. 2017 Feb 1; 10(2): 105–118. doi: 10.1242/dmm.026476

PMCID:: PMC5312003

Article

Select item 10514235.

Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.

S W Horsley, S J Knight, J Nixon, S Huson, M Fitchett, R A Boone, D Hilton-Jones, J Flint, L Kearney

J Med Genet. 1998 Sep; 35(9): 722–726. doi: 10.1136/jmg.35.9.722

PMCID:: PMC1051423

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