Literature DB >> 724287

Bilateral pulmonary agenesis.

A G Ostör, R Stillwell, D W Fortune.   

Abstract

Two cases of bilateral pulmonary agenesis in infants of 31 and 41 weeks gestation are reported. In addition to absence of both lungs, major abnormalities not previously reported were also found in other systems. It is concluded that these abnormalities are not due to chromosomal abnormality but no alternative can be offered.

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Mesh：

Year:  1978        PMID： 724287     DOI： 10.3109/00313027809063507

Source DB:  PubMed          Journal:  Pathology        ISSN： 0031-3025            Impact factor:   5.306


  4 in total

1.  Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

Authors:  Hana Abouzeid; Gaëlle Boisset; Tatiana Favez; Mohamed Youssef; Iman Marzouk; Nihal Shakankiry; Nader Bayoumi; Patrick Descombes; Céline Agosti; Francis L Munier; Daniel F Schorderet
Journal:  Am J Hum Genet       Date:  2010-12-30       Impact factor: 11.025

2.  Single, mediastinal, unilobar lung--a rare form of subtotal pulmonary agenesis.

Authors:  R I Markowitz; W Frederick; N S Rosenfield; J H Seashore; P H Duray
Journal:  Pediatr Radiol       Date:  1987

3.  Bilateral Pulmonary Agenesis: A Rare and Unexpected Finding in a Newborn.

Authors:  Lananh N Nguyen; W Tony Parks
Journal:  AJP Rep       Date:  2016-04

4.  Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.

Authors:  Uirá Souto Melo; Juliette Piard; Björn Fischer-Zirnsak; Marius-Konstantin Klever; Robert Schöpflin; Martin Atta Mensah; Manuel Holtgrewe; Francine Arbez-Gindre; Alain Martin; Virginie Guigue; Dominique Gaillard; Emilie Landais; Virginie Roze; Valerie Kremer; Rajeev Ramanah; Christelle Cabrol; Frederike L Harms; Uwe Kornak; Malte Spielmann; Stefan Mundlos; Lionel Van Maldergem
Journal:  Hum Genet       Date:  2021-08-26       Impact factor: 4.132
  4 in total

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