Annals of Child Neurology

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Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients

Ji Ye Ahn, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae

Ann Child Neurol. 2022;30(3):120-126. Published online June 22, 2022
DOI: https://doi.org/10.26815/acn.2022.00129

Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients

Ji Ye Ahn, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae

Annals of Child Neurology. 2022;30(3):120-126

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A case report of rare ZC4H2 ‐associated disorders associated with three large hernias

Syunsuke Nagara, Satoko Fukaya, Yukako Muramatsu, Tadashi Kaname, Taihei Tanaka

Pediatrics International. 2020;62(8):985-986

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Multilocus inheritance and variable disease expressivity in rare disease

Jennifer E. Posey

Genomics of Rare Diseases. 2021;185-204

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Adult presentations of variable kidney and liver phenotypes secondary to biallelic PKHD1 pathogenic variants

Ananya Das, Paul Mead, John A. Sayer

Journal of Rare Diseases. 2023;2(1):

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What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?

Jeanette Erdmann

Orphanet Journal of Rare Diseases. 2021;16(1):

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Alpha- 1-antitrypsin phenotypes and associated disease patterns in neurological patients

Y. I. Lolin, A. M. Ward

Acta Neurologica Scandinavica. 1995;91(5):394-398

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Tu1943 Interleukin-18RAP Genotypes Are Associated With Distinct Clinical Phenotypes in Crohn's Disease Patients

Altin Gjymishka, Roxana M. Coman, Sarah C. Glove

Gastroenterology. 2014;146(5):S-878

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Induced Pluripotent Stem Cells from Patients with Huntington's Disease Show CAG-Repeat-Expansion-Associated Phenotypes

The HD iPSC Consortium

Cell Stem Cell. 2012;11(2):264-278

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Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients

Tim Phetthong, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, Saisuda Noojarern, Chulaluck Kuptanon, Khunton Wichajarn, Achara Sathienkijkanchai, Kanya Suphapeetiporn, Pimlak Charoenkwan, Adisak Tantiworawit, Naruwan Noentong, Duangrurdee Wattanasirichaigoon

Orphanet Journal of Rare Diseases. 2021;16(1):

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The Variable in Common Variable Immunodeficiency: A Disease of Complex Phenotypes

The Journal of Allergy and Clinical Immunology: In Practice. 2013;1(6):557

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