Two sibs with Malpuech syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference5 articles.
1. A familial syndrome of short stature associated with facial dysplasia and genital anomalies
2. Malpuech facial clefting syndrome in a Japanese boy with cardiac defects
3. Apparent Malpuech syndrome: Report on three Brazilian patients with additional signs
4. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies
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2. Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach with review of the Literature;The Cleft Palate-Craniofacial Journal;2017-11
3. Proposed caudal appendage classification system; spinal cord tethering associated with sacrococcygeal eversion;Child's Nervous System;2016-08-06
4. Ultrasound presentation of Pallister-Killian syndrome with a prominent sacral appendage;Ultrasound in Obstetrics & Gynecology;2012-07-30
5. MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes;The American Journal of Human Genetics;2010-11
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