Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report
Author:
Publisher
Informa UK Limited
Subject
Genetics (clinical),Genetics
Reference17 articles.
1. Pfeiffer. Dominant hereditary acrocephalosyndactylia. Z Kinderheilkd. 1964;90(301):20.
2. Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis
3. A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome
4. Pfeiffer syndrome type 2: Further delineation and review of the literature
5. Pfeiffer syndrome
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1. A Rare Case of Prenatally Diagnosed Pfeiffer Syndrome with Multicystic Kidney;The Journal of Obstetrics and Gynecology of India;2024-09-14
2. Intervención fisioterapéutica en una niña con síndrome de Pfeiffer. Reporte de caso;Revista de Investigación e Innovación en Ciencias de la Salud;2022-09-22
3. Multidisciplinary Rehabilitation Approach to the Maxillo-Facial Complications of Crouson’s Disease: Case Report and Review;The Open Dentistry Journal;2022-08-22
4. De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome;Case Reports in Genetics;2022-06-28
5. Recent advances and application of whole genome amplification in molecular diagnosis and medicine;MedComm;2022-02-03
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