Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands-Reference-Cited by-同舟云学术

Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands

Published:2013-12-19 Issue:3 Volume:164 Page:648-654
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Alessandri Jean-Luc¹,Cuillier Fabrice²,Malan Valerie³,Brayer Claire¹,Grondard Maeva¹,Jacquemot-Dekkak Laure¹,Kieffer-Traversier Marie¹,Pierre Florence¹,Laurain Céline¹,Samperiz Sylvain¹,Tiran-Rajaofera Isabelle¹,Ramful Duksha¹

Affiliation:

1. Service Réanimation Néonatale; Pole Femme-Mère-Enfant; CH Félix Guyon; CHU de La Réunion Saint-Denis La Réunion France

2. Service de Gynécologie Obstétrique; Pole Femme-Mère-Enfant; CH Félix Guyon; CHU de La Réunion Saint-Denis La Réunion France

3. Département de Génétique; Université Paris Descartes; INSERM U781 Hôpital Necker-Enfant Malades AP-HP Paris France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference19 articles.

1. Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature;Alessandri;Genet Counsel,2005

2. Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome;Bamforth;Am J Med Genet,1989

3. Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: Towards a better delineation of the severe end of the spectrum;Coulibaly;Eur J Med Genet,2010

4. Pallister-Killian syndrome: Difficulties of prenatal diagnosis;Doray;Prenat Diagn,2002

5. A variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia;Fryns;J Med Genet,1987

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3. What is your diagnosis?;Journal of the Turkish-German Gynecological Association;2021-03-01

4. Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome;European Journal of Human Genetics;2018-01-12

5. Fryns Syndrome;Obstetric Imaging: Fetal Diagnosis and Care;2018