Limb/Pelvis-Hypoplasia/Aplasia Syndrome (Al-Awadi/Raas-Rothschild Syndrome): Report of Two Italian Sibs and Further Confirmation of Autosomal Recessive Inheritance.

Journal of Medical Genetics- United Kingdom

doi 10.1136/jmg.30.1.65

Full Text

Abstract

Available in

Categories

Genetics

Date

Authors

Publisher

BMJ

Related search

Van Maldergem Syndrome: Further Characterisation and Evidence for Neuronal Migration Abnormalities and Autosomal Recessive Inheritance

European Journal of Human Genetics
Genetics
2012English

Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

2020English

Autosomal Recessive Distal Osteolysis Syndrome

2020English

New Autosomal Recessive Faciodigitogenital Syndrome.

Journal of Medical Genetics
Genetics
1988Spanish

Hereditary Hypophosphataemic Rickets With Autosomal Recessive Inheritance and Severe Osteosclerosis. A Report of Two Cases

The Journal of Bone and Joint Surgery. British volume
1978English

Conotruncal Heart Defect/Microphthalmia Syndrome: Delineation of an Autosomal Recessive Syndrome.

Journal of Medical Genetics
Genetics
1997English

A New Syndrome of Autosomal Recessive Nephropathy, Deafness, and Hyperparathyroidism.

Journal of Medical Genetics
Genetics
1989English

Autosomal Recessive Hyperimmunoglobulin E Syndrome: A Distinct Disease Entity

Pediatrics
Child HealthPediatricsPerinatology
2005English

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes.

Annals of Internal Medicine
Internal MedicineMedicine
1991English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2026 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy