# Congenital Ear and Nasal Anomalies

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/congenital-ear-and-nasal-anomalies/

## Facts

| Field | Value |
| --- | --- |
| Description | This cluster of papers focuses on CHARGE syndrome, a genetic disorder caused by mutations in the CHD7 gene. It covers a wide range of topics including the phenotypic spectrum, diagnostic criteria, craniofacial and neurological abnormalities, as well as related conditions such as choanal atresia and hypogonadotropic hypogonadism. |
| Domain | Health Sciences |
| Field | Medicine |
| OpenAlex ID | t13738 |
| Works | 42 |

## Topic papers all

Showing 15 of 42.

- [Mutations in SOX2 cause anophthalmia](https://scholariq.org/papers/mutations-in-sox2-cause-anophthalmia/)
- [Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype](https://scholariq.org/papers/characterization-of-potocki-lupski-syndrome-dup-17-p11-2p11-2-and-delineation-of/)
- [The origin of the major cystic fibrosis mutation (ΔF508) in European populations](https://scholariq.org/papers/the-origin-of-the-major-cystic-fibrosis-mutation-f508-in-european-populations/)
- [Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations](https://scholariq.org/papers/heterozygous-mutations-of-otx2-cause-severe-ocular-malformations/)
- [Nonsurgical Correction of Congenital Auricular Deformities in the Early Neonate](https://scholariq.org/papers/nonsurgical-correction-of-congenital-auricular-deformities-in-the-early-neonate/)
- [Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined Danish and Swedish study](https://scholariq.org/papers/cancer-risk-among-patients-with-iga-deficiency-or-common-variable/)
- [Obstructive Sleep Apnea in Infants](https://scholariq.org/papers/obstructive-sleep-apnea-in-infants/)
- [Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III](https://scholariq.org/papers/genotypic-and-phenotypic-spectrum-in-tricho-rhino-phalangeal-syndrome-types-i/)
- [<i>SOX2</i> anophthalmia syndrome](https://scholariq.org/papers/i-sox2-i-anophthalmia-syndrome/)
- [Endoscopic Surgery for Juvenile Angiofibroma: When and How](https://scholariq.org/papers/endoscopic-surgery-for-juvenile-angiofibroma-when-and-how/)
- [SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development](https://scholariq.org/papers/sox2-plays-a-critical-role-in-the-pituitary-forebrain-and-eye-during-human/)
- [Efficacy and safety of low dose Mycophenolate mofetil treatment for immunoglobulin G4-related disease: a randomized clinical trial](https://scholariq.org/papers/efficacy-and-safety-of-low-dose-mycophenolate-mofetil-treatment-for/)
- [Listening and Language at 4 Years of Age](https://scholariq.org/papers/listening-and-language-at-4-years-of-age/)
- [Genetic Drivers of Kidney Defects in the DiGeorge Syndrome](https://scholariq.org/papers/genetic-drivers-of-kidney-defects-in-the-digeorge-syndrome/)
- [Factors affecting the success of nasolacrimal duct probing for congenital nasolacrimal duct obstruction](https://scholariq.org/papers/factors-affecting-the-success-of-nasolacrimal-duct-probing-for-congenital/)

## Topic primary papers

- [Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III](https://scholariq.org/papers/genotypic-and-phenotypic-spectrum-in-tricho-rhino-phalangeal-syndrome-types-i/)
- [Language performance in children with cochlear implants and additional disabilities](https://scholariq.org/papers/language-performance-in-children-with-cochlear-implants-and-additional/)
- [Nasal molding: a cultural practice causing respiratory distress in a term infant](https://scholariq.org/papers/nasal-molding-a-cultural-practice-causing-respiratory-distress-in-a-term-infant/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.