Prognosis of Infantile Spasms by J Gordon Millichap

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A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report by Amanda Trixie Hardigaloeh, Tri Juli Edi Tarigan, Em Yunir, Kanadi Sumapradja, Feranindhya Agiananda, Yulia Ariani, Nanis S Marzuki, Irfan Wahyudi, Lisnawati Lisnawati

Subjects: “…mixed gonadal dysgenesis…”
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Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges by Athanasia Stoupa, Aurore Carré, Michel Polak, Gabor Szinnai, Nadia Schoenmakers

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Sacral Dysgenesis Associated with Terminal Deletion of Chromosome 7 (q36-qter) by Pen-Hua Su, Jia-Yuh Chen, Suh-Jen Chen, Teng-Fu Tsao, Yu-Jie Lai

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THE RISK FOR DEVELOPING TUMOR IN PATIENTS WITH GONADAL DYSGENESIS 46,XY by O. Yu. Latyshev, L. N. Samsonova, E. P. Kasatkina, G. F. Okminyan, Ye. V. Kiselyova, Ye. S. Timofeyeva

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A Rare Case Report of Unilateral Congenital Ectropion Uveae (CEU) with Iridotrabecular Dysgenesis, Juvenile Glaucoma and Ptosis by V.K. Harshavardhan, S. Mohapatra, Parul Priyambada, Rakesh A. Betdur

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FENOTIP PADA KELAINAN GONADAL DISGENESIS 46, XY by Prima Chaerunisa Ananda, Sultana MH Faradz, Mahayu Dewi Ariani

Subjects: “…gonadal dysgenesis, 46, xy, fenotip, profil hormon.…”
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Swyer Syndrome: Clinical Case of Gonadal Dysgenesis in a 15-year-old Girl by Irina V. Karachentsova, Elena V. Sibirskaya, Tatyana G. Dyadik, Mariia Yu. Chernysheva, Kristina A. Osmanova, Varvara M. Golubkova, Anna V. Arutunyan, Angelina A. Sysoeva

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Cortical Dysgenesis and Infantile Spasms: PET Studies by J Gordon Millichap

Subjects: “…cortical dysgenesis…”
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Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report by Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi

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A 15-year-old Girl with a Lateral Neck Mass Turning Out to Be Papillary Thyroid Carcinoma - Lateral Ectopic Papillary Thyroid Carcinoma or Lymph Node Metastasis? by Marijke E.B. Kremer, A.S. Paul van Trotsenburg, Anton F. Engelsman, Esther Edelenbos, Arantza Farina-Sarasqueta, Joost van Schuppen, José C.C. Koppes, Joep P.M Derikx, Christiaan F. Mooij

Subjects: “…thyroid dysgenesis…”
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TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology by Athanasia Stoupa, Frédéric Adam, Dulanjalee Kariyawasam, Catherine Strassel, Sanjay Gawade, Gabor Szinnai, Alexandre Kauskot, Dominique Lasne, Carsten Janke, Kathiresan Natarajan, Alain Schmitt, Christine Bole‐Feysot, Patrick Nitschke, Juliane Léger, Fabienne Jabot‐Hanin, Frédéric Tores, Anita Michel, Arnold Munnich, Claude Besmond, Raphaël Scharfmann, François Lanza, Delphine Borgel, Michel Polak, Aurore Carré

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Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development by Heeyon Yoon, Dohyung Kim, Ja Hye Kim, Han-Wook Yoo, Jin-Ho Choi

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A rare chromosomal disorder in a newborn: Trisomy 3q by Dilek Kahvecioğlu, Hatice Tatar-Aksoy, Eren Yıldız, Abdullatif Bakır, Bülent Alioğlu

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Thyroid Hemiagenesis: An Incidental Discovery during Treatment for Papillary Thyroid Carcinoma by Chang Haur Lee, Yazid Pol Ong, Firdaus Hayati, Muhammad Zahid Abdul Muien, Siti Zubaidah Sharif

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Segmental Spinal Dysgenesis by Nisar Ahmed, Rahat Shahid, Kiran Nauman, Nauman Ayub

Subjects: “…Segmental spinal dysgenesis, Thoracolumbar kyphosis, Cordanomaly, Magnetic resonance imaging…”
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The restrained inguinal hernia at children with violation a floor form by M. A. Axel’rov, E. B. Khramova, V. N. Evdokimov, A. V. Shaytarova, A. V. Stolyar

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Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2 by Uluç Yiş, Vishal Dixit, Sedat Işıkay, Mert Karakaya, Figen Baydan, Gülden Diniz, İpek Polat, Semra Hız-Kurul, Sebahattin Çırak

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Subependymal Gray Matter Heterotopia With Seizure in a 6‐Month‐Old Child by Bibek Shrestha, Priyesh Shrestha, Vivek Karn, Shiva Ram Ale Magar

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Recurrent spontaneous gastric perforations in a neonate with renal tubular dysgenesis: A case report by Mashael AlSiddiqi, Safaa Najar, Sami Taha, Hassan Baghazal, Noora Alshahwani

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