The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients Poole, Rebecca L.; Bijlsma, Emilia K.; Houge, Gunnar; More Poole, Rebecca L.; Bijlsma, Emilia K.; Houge, Gunnar; Jones, Gabriela; Mikštienė, Violeta; Preikšaitienė, Eglė; Thompson, Louise; Tatton-Brown, Katrina Less Clinical Dysmorphology. 32(2):49-54, April 2023. Abstract Abstract Favorite PDF Permissions Buy SDC
Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome Geckinli, Bilge; Turkyilmaz, Ayberk; Alavanda, Ceren; More Geckinli, Bilge; Turkyilmaz, Ayberk; Alavanda, Ceren; Sager, Gunes; Arslan Ates, Esra; Soylemez, Mehmet Ali; Arman, Ahmet Less Clinical Dysmorphology. 32(2):55-61, April 2023. Abstract Abstract Favorite PDF Permissions Buy
Clinical, genetic, and electron microscopy of hair findings in a patient with CDH3-related hypotrichosis with juvenile macular dystrophy Leal-Rodríguez, Ricardo; Barragán-Arévalo, Tania; Pérez-Torres, Armando; More Leal-Rodríguez, Ricardo; Barragán-Arévalo, Tania; Pérez-Torres, Armando; Giraldo-Gómez, David M.; Zenteno, Juan Carlos Less Clinical Dysmorphology. 32(2):62-64, April 2023. Favorite PDF Permissions Buy SDC
An unexpected clinical presentation in periodontal Ehler-Danlos syndrome: preterm birth, profound intellectual disability and self-injurious behavior Baykal, Saliha; Yildiz, Tuğçe; Gürbüz, Gürkan; More Baykal, Saliha; Yildiz, Tuğçe; Gürbüz, Gürkan; Tozkir, Hilmi Less Clinical Dysmorphology. 32(2):65-69, April 2023. Favorite PDF Permissions Buy
Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion Rodrigues, Raquel; Soeiro e Sá, Mariana; Sousa, Ana; More Rodrigues, Raquel; Soeiro e Sá, Mariana; Sousa, Ana; Sousa, Ana Berta Less Clinical Dysmorphology. 32(2):70-73, April 2023. Favorite PDF Permissions Buy
Aphallia in a neonate with VACTERL malformation: report of a rare association Krishnamoorthy, Kiruthi; Sethuraman, Giridhar; Devi, Usha Krishnamoorthy, Kiruthi; Sethuraman, Giridhar; Devi, Usha Less Clinical Dysmorphology. 32(2):74-76, April 2023. Favorite PDF Permissions Buy
Hashitoxicosis in a patient with Nicolaides-Baraitser Syndrome: a case report Henriquez-Lopez, Claudia Jessy; McLean, Scott Henriquez-Lopez, Claudia Jessy; McLean, Scott Less Clinical Dysmorphology. 32(2):77-79, April 2023. Favorite PDF Permissions Buy
Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features Awwad, Johnny; Yammine, Tony; Hamdar, Layal; More Awwad, Johnny; Yammine, Tony; Hamdar, Layal; Souaid, Mirna; Farra, Chantal Less Clinical Dysmorphology. 32(2):80-83, April 2023. Favorite PDF Permissions Buy
Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects Zaersabet, Mona; Koochakkhani, Shabnaz; Sarmast, Yeganeh; More Zaersabet, Mona; Koochakkhani, Shabnaz; Sarmast, Yeganeh; Salmani, Hamzeh Less Clinical Dysmorphology. 32(2):84-87, April 2023. Favorite PDF Permissions Buy
Neonatal ichthyosis–sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature Demir, Engin; Tuna Kirsaçlioğlu, Ceyda; Saltik-Temizel, İnci Nur; More Demir, Engin; Tuna Kirsaçlioğlu, Ceyda; Saltik-Temizel, İnci Nur; Ürel-Demir, Gizem; Karaosmanoğlu, Beren; Taşkiran, Ekim Zihni; Şimşek-Kiper, Pelin Özlem; Utine, Gülen Eda; Kuloğlu, Zarife; Kansu, Aydan Less Clinical Dysmorphology. 32(2):88-91, April 2023. Favorite PDF Permissions Buy
Restrictive dermopathy due to ZMPSTE24 deficiency Ververi, Athina; Babatseva, Evgeniya; Mitsiakos, Georgios; More Ververi, Athina; Babatseva, Evgeniya; Mitsiakos, Georgios; Karagiannopoulou, Georgia; Malakozi, Marina; Patsatsi, Aikaterini; Diamanti, Elisavet; Garg, Abhimanyu Less Clinical Dysmorphology. 32(2):92-94, April 2023. Favorite PDF Permissions Buy
Bloom syndrome in children: unusual case of early onset lung damage Ajmi, Houda; Trabelsi, Ines; Rjiba, Khouloud; More Ajmi, Houda; Trabelsi, Ines; Rjiba, Khouloud; Mabrouk, Sameh; Zouari, Noura; Mougou-Zerelli, Soumaya; Verloes, Alain; Abroug, Saoussan Less Clinical Dysmorphology. 32(2):95-96, April 2023. Favorite PDF Permissions Buy
