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Meckel-Gruber syndrome

Known as: dysencephalia splanchnocystica, meckel gruber syndrome 
A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic… 
National Institutes of Health

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Cerebrorenodigital Syndrome with Limb Malformations and Triradiate AcetabulaHereditary DiseasesMKS1 gene

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Meckel syndrome type 1

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Meckel gruber syndrome.
  • J. RoyM. Pal
  • Journal of clinical and diagnostic research…
  • 2013
  • Corpus ID: 44532556
Dear Sir, We are reporting a case of Meckel-Gruber Syndrome (MGS), which was identified by its typical structural anomalies… 
2013
2013
Preimplantation Genetic Diagnosis for a Chinese Family with Autosomal Recessive Meckel-Gruber Syndrome Type 3 (MKS3)
Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study… 
2011
2011
Non-universal equilibrium crystal shape results from sticky steps
  • N. Akutsu
  • Journal of Physics: Condensed Matter
  • 2011
  • Corpus ID: 6424825
The anisotropic surface free energy, Andreev surface free energy and equilibrium crystal shape (ECS) z = z(x,y) are calculated… 
2007
2007
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel‐Gruber syndrome
Meckel‐Gruber syndrome (MKS) is an autosomal recessive, usually lethal multisystemic disorder characterized by early… 
2004
2004
Prenatal diagnosis of Meckel-Gruber syndrome and Dandy-Walker malformation in four consecutive affected siblings, with the fourth one being diagnosed prenatally at 22 weeks of gestation.
We report a 23-week-old male fetus affected by Meckel-Gruber syndrome. Posterior encephalocele, post-axial polydactyly, and Dandy… 
2003
2003
Features Described and Illustrated in 1684 Suggesting Meckel-Gruber Syndrome
In 1684, Mr. Christopher Krahe described a monstrous child, born in Denmark on Friday, February 29, 1684. The description is… 
Review
1995
Review
1995
Cephalocele detection in utero: sonographic and clinical features
Sonographic and clinical features of 26 fetal cephaloceles were reviewed retrospectively. The most frequent reason for referral… 
Review
1992
Review
1992
Meckel Gruber syndrome: a case diagnosed in utero.
A case of Meckel Gruber syndrome is presented, diagnosed prenatally from the medical history of the mother which revealed a… 
1990
1990
Meckel-Gruber syndrome. A lethal combination of abnormalities.
We herein describe two cases of Meckel-Gruber Syndrome identified in stillborn infants. Both had all three elements of the… 
1982
1982
Association of Meckel syndrome with M‐anisosplenia in one patient
This report concerns the concurrence in a male infant of Meckel syndrome (Dysencephalia splanchnocystica) and M‐anisosplenia. a… 
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