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rubinstein taybi genereviews

Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf

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Dorsal (A) and palmar (B) view of the hands of the girl in Figure 1. Note clinodactyly, widened fingertips, and prominent joints.
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
PDF) A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia - ScienceDirect
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
Calaméo - Embryo and Fetal Pathology
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability - ScienceDirect
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability - ScienceDirect
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
Human temperature regulation under heat stress in health, disease, and injury
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification - ScienceDirect
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
Macrodactyly SpringerLink
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
Genes, Free Full-Text
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
51st Annual Meeting of the Child Neurology Society - 2022 - Annals of Neurology - Wiley Online Library
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
PDF) The Pleiotropic Intricacies of Hedgehog Signaling: From Craniofacial Patterning to Carcinogenesis
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
Kidney, Pelvis, and Ureter
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
PDF) LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
Syndromic Eye Anomalies
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